104191-2
Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
Active
Panel Hierarchy
Details for each LOINC in Panel LHC-Forms
| LOINC | Name | R/O/C | Cardinality | Example UCUM Units |
|---|---|---|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel | |||
| Indent57794-0 | Newborn screening test results panel - Dried blood spot | C | ||
| Indent Indent53261-4 | Amino acid newborn screen panel | C | ||
| Indent Indent Indent46733-2 | Amino acidemias newborn screen interpretation | C | ||
| Indent Indent Indent57710-6 | Amino acidemias newborn screening comment-discussion | C | ||
| Indent Indent Indent57793-2 | Amino acidemia disorder suspected [Identifier] in DBS | C | ||
| Indent Indent Indent46746-4 | Phenylketonuria and variants/Biopterin defects newborn screen interpretation | C | ||
| Indent Indent Indent58231-2 | Phenylketonuria and variants/Biopterin defects newborn screening comment-discussion | C | ||
| Indent Indent Indent46743-1 | Maple syrup urine disease newborn screen interpretation | C | ||
| Indent Indent Indent58230-4 | Maple syrup urine disease newborn screening comment-discussion | C | ||
| Indent Indent Indent47539-2 | 3-Methylhistidine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent53232-5 | 5-Oxoproline+Pipecolate [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent53394-3 | 5-Oxoproline+Pipecolate/Phenylalanine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent53150-9 | Alanine+Beta Alanine+Sarcosine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent53393-5 | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline+Valine/Phenylalanine+Tyrosine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent53152-5 | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent53153-3 | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phenylalanine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent53154-1 | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent47562-4 | Arginine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent75214-7 | Arginine/Ornithine [Molar ratio] in DBS | C | {ratio} | |
| Indent Indent Indent53398-4 | Arginine/Phenylalanine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent53062-6 | Argininosuccinate [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent53200-2 | Argininosuccinate/Arginine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent53155-8 | Asparagine+Ornithine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent53395-0 | Asparagine+Ornithine/Serine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent53396-8 | Asparagine+Ornithine/Phenylalanine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent47573-1 | Aspartate [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent42892-0 | Citrulline [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent54092-2 | Citrulline/Arginine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent53157-4 | Citrulline/Phenylalanine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent53399-2 | Citrulline/Tyrosine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent47623-4 | Glutamate [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent47633-3 | Glycine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent93488-5 | Guanidinoacetate [Moles/volume] in DBS | umol/L | ||
| Indent Indent Indent47643-2 | Histidine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent53158-2 | Homocitrulline [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent47689-5 | Lysine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent47700-0 | Methionine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent53397-6 | Methionine/Alloisoleucine+Isoleucine+Leucine+Hydroxyproline [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent53156-6 | Methionine/Phenylalanine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent75215-4 | Ornithine/Citrulline [Molar ratio] in DBS | C | {ratio} | |
| Indent Indent Indent29573-3 | Phenylalanine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent35572-7 | Phenylalanine/Tyrosine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent47732-3 | Proline [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent53392-7 | Proline/Phenylalanine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent47742-2 | Serine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent53231-7 | Succinylacetone [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent47784-4 | Threonine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent53159-0 | Tryptophan [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent35571-9 | Tyrosine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent47799-2 | Valine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent53151-7 | Valine/Phenylalanine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent58092-8 | Acylcarnitine newborn screen panel | C | ||
| Indent Indent Indent58088-6 | Acylcarnitine newborn screen interpretation | C | ||
| Indent Indent Indent58093-6 | Acylcarnitine newborn screening comment-discussion | C | ||
| Indent Indent Indent57084-6 | Fatty acid oxidation newborn screen panel | C | ||
| Indent Indent Indent Indent46736-5 | Fatty acid oxidation defects newborn screen interpretation | C | ||
| Indent Indent Indent Indent57792-4 | Fatty acid oxidation conditions suspected [Identifier] in DBS | C | ||
| Indent Indent Indent Indent57709-8 | Fatty acid oxidation defects newborn screening comment-discussion | C | ||
| Indent Indent Indent Indent38481-8 | Carnitine free (C0) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53233-3 | Carnitine free (C0)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53234-1 | Carnitine free (C0)/Stearoylcarnitine (C18) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53235-8 | Carnitine free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53236-6 | Carnitine.free (C0)+Acetylcarnitine (C2)+Propionylcarnitine (C3)+Palmitoylcarnitine (C16)+Oleoylcarnitine (C18:1)+Stearoylcarnitine (C18)/Citrulline [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent75211-3 | Propionylcarnitine (C3)+Palmitoylcarnitine (C16) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent75212-1 | Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in DBS | C | {ratio} | |
| Indent Indent Indent Indent54462-7 | Malonylcarnitine (C3-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent75213-9 | Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)/Decanoylcarnitine (C10) [Molar ratio] in DBS | C | {ratio} | |
| Indent Indent Indent Indent50157-7 | Acetylcarnitine (C2) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53166-5 | Butyrylcarnitine+Isobutyrylcarnitine (C4) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53167-3 | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53168-1 | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53169-9 | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent50102-3 | 3-Hydroxybutyrylcarnitine (C4-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent45211-0 | Hexanoylcarnitine (C6) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53173-1 | 3-Hydroxyhexanoylcarnitine (C6-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent45207-8 | Glutarylcarnitine (C5-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53174-9 | Octenoylcarnitine (C8:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53175-6 | Octanoylcarnitine (C8) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53176-4 | Octanoylcarnitine (C8)/Acetylcarnitine (C2) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53177-2 | Octanoylcarnitine (C8)/Decanoylcarnitine (C10) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53178-0 | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53402-4 | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53179-8 | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53180-6 | Decadienoylcarnitine (C10:2) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent45198-9 | Decenoylcarnitine (C10:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent45197-1 | Decanoylcarnitine (C10) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53182-2 | 3-Hydroxydecenoylcarnitine (C10:1-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53183-0 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53403-2 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53184-8 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53185-5 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53186-3 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent45200-3 | Dodecenoylcarnitine (C12:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent45199-7 | Dodecanoylcarnitine (C12) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53188-9 | 3-Hydroxydodecenoylcarnitine (C12:1-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53189-7 | 3-Hydroxydodecanoylcarnitine (C12-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53190-5 | Tetradecadienoylcarnitine (C14:2) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53191-3 | Tetradecenoylcarnitine (C14:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53192-1 | Tetradecanoylcarnitine (C14) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53193-9 | Tetradecenoylcarnitine (C14:1)/Acetylcarnitine (C2) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53194-7 | Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53195-4 | Tetradecenoylcarnitine (C14:1)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent70159-9 | Tetradecenoylcarnitine (C14:1)/Tetradecanoylcarnitine (C14) [Molar ratio] in DBS | C | {ratio} | |
| Indent Indent Indent Indent53196-2 | 3-Hydroxytetradecadienoylcarnitine (C14:2-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53197-0 | 3-Hydroxytetradecenoylcarnitine (C14:1-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent50281-5 | 3-Hydroxytetradecanoylcarnitine (C14-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53198-8 | Palmitoleylcarnitine (C16:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53199-6 | Palmitoylcarnitine (C16) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent50121-3 | 3-Hydroxypalmitoleylcarnitine (C16:1-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent50125-4 | 3-Hydroxypalmitoylcarnitine (C16-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53201-0 | 3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent45217-7 | Linoleoylcarnitine (C18:2) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53202-8 | Oleoylcarnitine (C18:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53241-6 | Stearoylcarnitine (C18) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53400-8 | Stearoylcarnitine (C18)/Propionylcarnitine (C3) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent50109-8 | 3-Hydroxylinoleoylcarnitine (C18:2-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent50113-0 | 3-Hydroxyoleoylcarnitine (C18:1-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent50132-0 | 3-Hydroxystearoylcarnitine (C18-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53836-3 | ABCD1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |||
| Indent Indent Indent57085-3 | Organic acid newborn screen panel | C | ||
| Indent Indent Indent Indent46744-9 | Organic acidemias newborn screen interpretation | C | ||
| Indent Indent Indent Indent57791-6 | Organic acidemia conditions suspected [Identifier] in DBS | C | ||
| Indent Indent Indent Indent57708-0 | Organic acidemias defects newborn screening comment-discussion | C | ||
| Indent Indent Indent Indent50157-7 | Acetylcarnitine (C2) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53237-4 | Acrylylcarnitine (C3:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53160-8 | Propionylcarnitine (C3) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53161-6 | Propionylcarnitine (C3)/Methionine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53162-4 | Propionylcarnitine (C3)/Carnitine.free (C0) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53163-2 | Propionylcarnitine (C3)/Acetylcarnitine (C2) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent54462-7 | Malonylcarnitine (C3-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent67708-8 | Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent75213-9 | Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)/Decanoylcarnitine (C10) [Molar ratio] in DBS | C | {ratio} | |
| Indent Indent Indent Indent53164-0 | Propionylcarnitine (C3)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53166-5 | Butyrylcarnitine+Isobutyrylcarnitine (C4) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53167-3 | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53168-1 | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53169-9 | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53170-7 | Tiglylcarnitine (C5:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent45207-8 | Glutarylcarnitine (C5-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent75216-2 | Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in DBS | {ratio} | ||
| Indent Indent Indent Indent67701-3 | Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent67710-4 | Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent67711-2 | Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent45216-9 | Isovalerylcarnitine+Methylbutyrylcarnitine (C5) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53238-2 | Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Carnitine.free (C0) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53239-0 | Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Acetylcarnitine (C2) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53240-8 | Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53401-6 | Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Octanoylcarnitine (C8) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent50106-4 | 3-Hydroxyisovalerylcarnitine (C5-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53171-5 | 3-Hydroxyisovalerylcarnitine (C5-OH)/Carnitine.free (C0) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53172-3 | 3-Hydroxyisovalerylcarnitine (C5-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53178-0 | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53402-4 | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53179-8 | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent45222-7 | Methylmalonylcarnitine (C4-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent67709-6 | Methylmalonylcarnitine (C4-DC)+3-Hydroxyisovalerylcarnitine (C5-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53181-4 | Methylmalonylcarnitine (C4-DC)/3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53183-0 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53403-2 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53184-8 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53185-5 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53186-3 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53187-1 | Methylglutarylcarnitine (C6-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53165-7 | Formiminoglutamate [Moles/volume] in DBS | C | umol/L | |
| Indent Indent54078-1 | Cystic fibrosis newborn screening panel | C | ||
| Indent Indent Indent46769-6 | Cystic fibrosis newborn screen interpretation | R | 1..1 | |
| Indent Indent Indent57707-2 | Cystic fibrosis newborn screening comment-discussion | C | ||
| Indent Indent Indent54083-1 | CFTR gene mutations found [Identifier] in DBS by Molecular genetics method Nominal | C | ||
| Indent Indent Indent2077-6 | Chloride [Moles/volume] in Sweat | C | mmol/L | |
| Indent Indent Indent48633-2 | Trypsinogen I Free [Mass/volume] in DBS | C | ug/L | |
| Indent Indent54076-5 | Endocrine newborn screening panel | C | ||
| Indent Indent Indent57086-1 | Congenital adrenal hyperplasia newborn screening panel | C | ||
| Indent Indent Indent Indent46758-9 | Congenital adrenal hyperplasia newborn screen interpretation | R | 1..1 | |
| Indent Indent Indent Indent57706-4 | Congenital adrenal hyperplasia newborn screening comment-discussion | C | ||
| Indent Indent Indent Indent53347-1 | 11-Deoxycorticosterone [Mass/volume] in DBS | C | ng/dL | |
| Indent Indent Indent Indent53338-0 | 11-Deoxycortisol [Mass/volume] in DBS | C | ug/dL | |
| Indent Indent Indent Indent38473-5 | 17-Hydroxyprogesterone [Mass/volume] in DBS | C | ng/mL | |
| Indent Indent Indent Indent53336-4 | 17-Hydroxyprogesterone+Androstenedione/Cortisol [Mass Ratio] in DBS | C | {ratio} | |
| Indent Indent Indent Indent53341-4 | 21-Deoxycortisol [Mass/volume] in DBS | C | ug/dL | |
| Indent Indent Indent Indent53343-0 | Androstenedione [Mass/volume] in DBS | C | ng/dL | |
| Indent Indent Indent Indent53345-5 | Cortisol [Mass/volume] in DBS | C | ug/dL | |
| Indent Indent Indent54090-6 | Thyroid newborn screening panel | C | ||
| Indent Indent Indent Indent46762-1 | Congenital hypothyroidism newborn screen interpretation | R | ||
| Indent Indent Indent Indent57705-6 | Congenital hypothyroidism newborn screening comment-discussion | C | ||
| Indent Indent Indent Indent31144-9 | Thyroxine (T4) [Mass/volume] in DBS | C | ug/dL | |
| Indent Indent Indent Indent29575-8 | Thyrotropin [Units/volume] in DBS | C | m[IU]/L | |
| Indent Indent54079-9 | Galactosemia newborn screening panel | C | ||
| Indent Indent Indent46737-3 | Galactosemias newborn screen interpretation | R | 1..1 | |
| Indent Indent Indent57704-9 | Galactosemias newborn screening comment-discussion | C | ||
| Indent Indent Indent54084-9 | Galactose [Mass/volume] in DBS | C | mg/dL | |
| Indent Indent Indent33288-2 | Galactose 1 phosphate uridyl transferase [Presence] in DBS | C | ||
| Indent Indent Indent42906-8 | Galactose 1 phosphate uridyl transferase [Enzymatic activity/volume] in DBS | C | nmol/h/mL | |
| Indent Indent Indent40842-7 | Galactose 1 phosphate [Mass/volume] in DBS | C | mg/dL | |
| Indent Indent54081-5 | Hemoglobinopathies newborn screening panel | C | ||
| Indent Indent Indent64116-7 | Hemoglobin observations newborn screening panel | |||
| Indent Indent Indent Indent64122-5 | Hemoglobins that can be presumptively identified based on available controls in DBS | C | ||
| Indent Indent Indent Indent64117-5 | Most predominant hemoglobin in DBS | C | ||
| Indent Indent Indent Indent64118-3 | Second most predominant hemoglobin in DBS | C | ||
| Indent Indent Indent Indent64119-1 | Third most predominant hemoglobin in DBS | C | ||
| Indent Indent Indent Indent64120-9 | Fourth most predominant hemoglobin in DBS | C | ||
| Indent Indent Indent Indent64121-7 | Fifth most predominant hemoglobin in DBS | C | ||
| Indent Indent Indent46740-7 | Hemoglobin disorders newborn screen interpretation | R | 1..1 | |
| Indent Indent Indent57703-1 | Hemoglobin disorders newborn screening comment-discussion | C | ||
| Indent Indent Indent71592-0 | Hemoglobinopathies conditions suspected [Identifier] in DBS | C | ||
| Indent Indent Indent54072-4 | Hemoglobin A/Hemoglobin.total in DBS | C | % | |
| Indent Indent Indent54069-0 | Hemoglobin Barts/Hemoglobin.total in DBS | C | % | |
| Indent Indent Indent54073-2 | Hemoglobin C/Hemoglobin.total in DBS | C | % | |
| Indent Indent Indent54070-8 | Hemoglobin D/Hemoglobin.total in DBS | C | % | |
| Indent Indent Indent54071-6 | Hemoglobin E/Hemoglobin.total in DBS | C | % | |
| Indent Indent Indent54074-0 | Hemoglobin F/Hemoglobin.total in DBS | C | % | |
| Indent Indent Indent54068-2 | Hemoglobin O - Arab/Hemoglobin.total in DBS | C | % | |
| Indent Indent Indent56476-5 | Hemoglobin S/Hemoglobin.total in DBS | C | % | |
| Indent Indent54082-3 | Infectious diseases newborn screening panel | C | ||
| Indent Indent Indent57702-3 | Infectious diseases newborn screen interpretation | R | 1..1 | |
| Indent Indent Indent57701-5 | Infectious diseases newborn screening comment-discussion | C | ||
| Indent Indent Indent54086-4 | HIV 1+2 IgG Ab [Presence] in DBS | C | ||
| Indent Indent Indent54087-2 | Toxoplasma gondii IgG Ab [Presence] in DBS | C | ||
| Indent Indent Indent54088-0 | Toxoplasma gondii IgM Ab [Presence] in DBS | C | ||
| Indent Indent57087-9 | Biotinidase newborn screening panel | C | ||
| Indent Indent Indent46761-3 | Biotinidase deficiency newborn screen interpretation | R | 1..1 | |
| Indent Indent Indent57699-1 | Biotinidase deficiency newborn screening comment-discussion | C | ||
| Indent Indent Indent38478-4 | Biotinidase [Presence] in DBS | C | ||
| Indent Indent Indent75217-0 | Biotinidase [Enzymatic activity/volume] in DBS | C | nmol/mL/min | |
| Indent Indent58091-0 | Glucose-6-Phosphate dehydrogenase newborn screen panel | C | ||
| Indent Indent Indent58089-4 | Glucose-6-Phosphate dehydrogenase newborn screen interpretation | C | ||
| Indent Indent Indent58090-2 | Glucose-6-Phosphate dehydrogenase newborn screening comment-discussion | C | ||
| Indent Indent Indent33287-4 | Glucose-6-Phosphate dehydrogenase [Presence] in DBS | C | ||
| Indent Indent62300-9 | Lysosomal storage disorders newborn screening panel | C | ||
| Indent Indent Indent62301-7 | Lysosomal storage disorders newborn screen interpretation | C | 0..1 | |
| Indent Indent Indent62303-3 | Lysosomal storage disorders newborn screening comment-discussion | C | 0..1 | |
| Indent Indent Indent62302-5 | Lysosomal storage disorders suspected [Identifier] in DBS | C | 0..1 | |
| Indent Indent Indent62304-1 | Fabry disease newborn screening panel | C | ||
| Indent Indent Indent Indent62305-8 | Fabry disease newborn screen interpretation | R | 0..1 | |
| Indent Indent Indent Indent62306-6 | Fabry disease newborn screening comment-discussion | C | 0..1 | |
| Indent Indent Indent Indent55908-8 | Alpha galactosidase A [Enzymatic activity/volume] in DBS | C | 0..1 | umol/L/h |
| Indent Indent Indent62307-4 | Krabbe disease newborn screening panel | C | ||
| Indent Indent Indent Indent62308-2 | Krabbe disease newborn screen interpretation | R | 0..1 | |
| Indent Indent Indent Indent62309-0 | Krabbe disease newborn screening comment-discussion | C | 0..1 | |
| Indent Indent Indent Indent62310-8 | Galactosylceramidase [Enzymatic activity/volume] in DBS | C | 0..1 | umol/L/h |
| Indent Indent Indent62311-6 | Gaucher disease newborn screening panel | C | ||
| Indent Indent Indent Indent62312-4 | Gaucher disease newborn screen interpretation | R | 0..1 | |
| Indent Indent Indent Indent62313-2 | Gaucher disease newborn screening comment-discussion | C | 0..1 | |
| Indent Indent Indent Indent55917-9 | Glucosylceramidase [Enzymatic activity/volume] in DBS | C | 0..* | umol/L/h |
| Indent Indent Indent79563-3 | Mucopolysaccharidosis type I newborn screening panel | |||
| Indent Indent Indent Indent55909-6 | Alpha-L-iduronidase [Enzymatic activity/volume] in DBS | umol/h/L | ||
| Indent Indent Indent Indent79564-1 | Mucopolysaccharidosis type I newborn screen interpretation | |||
| Indent Indent Indent Indent79565-8 | Mucopolysaccharidosis type I newborn screening comment-discussion | |||
| Indent Indent Indent62315-7 | Niemann Pick disease A/B newborn screening panel | C | ||
| Indent Indent Indent Indent62318-1 | Niemann Pick disease A/B newborn screen interpretation | R | 0..1 | |
| Indent Indent Indent Indent62319-9 | Niemann Pick disease A/B newborn screening comment-discussion | C | 0..1 | |
| Indent Indent Indent Indent62316-5 | Acid sphingomyelinase [Enzymatic activity/volume] in DBS | C | 0..1 | umol/L/h |
| Indent Indent Indent63414-7 | Pompe disease newborn screening panel | C | ||
| Indent Indent Indent Indent63415-4 | Pompe disease newborn screen interpretation | R | 0..* | |
| Indent Indent Indent Indent63416-2 | Pompe disease newborn screening comment-discussion | C | 0..* | |
| Indent Indent Indent Indent55827-0 | Acid alpha glucosidase [Enzymatic activity/volume] in DBS | C | 0..* | umol/L/h |
| Indent Indent62333-0 | Severe combined immunodeficiency (SCID) newborn screening panel | C | ||
| Indent Indent Indent62321-5 | Severe combined immunodeficiency newborn screen interpretation | R | 1..1 | |
| Indent Indent Indent62322-3 | Severe combined immunodeficiency newborn screening comment-discussion | C | 0..1 | |
| Indent Indent Indent62320-7 | T-cell receptor excision circle [#/volume] in DBS by NAA with probe detection | C | 0..1 | {copies} |
| Indent Indent Indent92006-6 | T-cell receptor excision circle [Cycle Threshold #] in DBS | {Ct_value} | ||
| Indent Indent Indent92007-4 | T-cell receptor excision circle [Z-score] in DBS | {Zscore} | ||
| Indent Indent Indent92008-2 | T-cell receptor excision circle [Multiple of the median] in DBS | {M.o.M} | ||
| Indent Indent92005-8 | Spinal muscular atrophy newborn screening panel | |||
| Indent Indent Indent92004-1 | Spinal muscular atrophy newborn screen interpretation | |||
| Indent Indent Indent92003-3 | Spinal muscular atrophy newborn screening comment-discussion | |||
| Indent Indent Indent92002-5 | SMN1 gene [Cycle Threshold #] in DBS by NAA with probe detection | {Ct_value} | ||
| Indent Indent Indent97654-8 | SMN2 gene copy number in Blood or Tissue by Molecular genetics method | {#} | ||
| Indent Indent85267-3 | X-linked adrenoleukodystrophy (X-ALD) newborn screening panel | C | 0..1 | |
| Indent Indent Indent85269-9 | X-linked adrenoleukodystrophy newborn screen interpretation | C | 0..* | |
| Indent Indent Indent85268-1 | X-linked adrenoleukodystrophy newborn screening comment-discussion | C | 0..* | |
| Indent Indent Indent79321-6 | Lysophosphatidylcholine(26:0) [Moles/volume] in DBS | O | 0..1 | umol/L |
| Indent Indent57128-1 | Newborn Screening Report summary panel | C | 0..1 | |
| Indent Indent Indent57721-3 | Reason for lab test in Dried blood spot | R | 1..1 | |
| Indent Indent Indent57718-9 | Sample quality of Dried blood spot | R | 1..1 | |
| Indent Indent Indent57130-7 | Newborn screening report - overall interpretation | C | 1..* | |
| Indent Indent Indent57131-5 | Newborn conditions with positive markers [Identifier] in DBS | R | 1..* | |
| Indent Indent Indent57720-5 | Newborn conditions with equivocal markers [Identifier] in DBS | R | 1..* | |
| Indent Indent Indent57724-7 | Newborn screening short narrative summary | O | 0..1 | |
| Indent Indent Indent57129-9 | Full newborn screening summary report for display or printing | O | 0..1 | |
| Indent Indent Indent57719-7 | Conditions tested for in this newborn screening study [Identifier] in DBS | R | 1..* | |
| Indent Indent Indent69969-4 | Newborn screening report overall laboratory comment | O | 0..* | |
| Indent Indent57717-1 | Newborn screen card data panel | C | ||
| Indent Indent Indent57716-3 | State printed on filter paper card [Identifier] in NBS card | R | ||
| Indent Indent Indent79566-6 | Collection method - DBS | O | ||
| Indent Indent Indent8339-4 | Birthweight | R | [lb_av];kg;g | |
| Indent Indent Indent58229-6 | Body weight Measured --when specimen taken | O | [lb_av];kg | |
| Indent Indent Indent57715-5 | Time of birth | R | {clock_time} | |
| Indent Indent Indent73806-2 | Newborn age in hours | O | h | |
| Indent Indent Indent57722-1 | Birth plurality of Pregnancy | R | ||
| Indent Indent Indent57714-8 | Obstetric estimation of gestational age | R | wk | |
| Indent Indent Indent57713-0 | Infant factors that affect newborn screening interpretation | R | 1..* | |
| Indent Indent Indent67703-9 | Other infant factors that affect newborn screening interpretation Narrative | C | 0..* | |
| Indent Indent Indent67706-2 | Maternal factors that affect newborn screening interpretation | O | 0..* | |
| Indent Indent Indent67707-0 | Other maternal factors that affect newborn screening interpretation Narrative | C | 0..* | |
| Indent Indent Indent77739-1 | Mother's Hepatitis B virus surface Ag status | C | ||
| Indent Indent Indent57712-2 | Highest level of education Mother | O | 0..1 | |
| Indent Indent Indent67704-7 | Feeding types | R | 1..* | |
| Indent Indent Indent67705-4 | Other feeding types Narrative | C | 0..* | |
| Indent Indent Indent79569-0 | Blood product given [Type] | C | ||
| Indent Indent Indent62317-3 | Date of last blood product transfusion | O | 0..1 | |
| Indent Indent Indent58232-0 | Hearing loss risk indicators [Identifier] | C | 1..* | |
| Indent Indent Indent54106-0 | Newborn hearing screen method | C | ||
| Indent Indent Indent54108-6 | Newborn hearing screen of Ear - left | C | ||
| Indent Indent Indent54109-4 | Newborn hearing screen of Ear - right | C | ||
| Indent Indent Indent73700-7 | CCHD newborn screening interpretation | C | ||
| Indent Indent Indent73698-3 | Reason CCHD oxygen saturation screening not performed | C | ||
| Indent Indent Indent57723-9 | Unique bar code number of Current sample | R | ||
| Indent Indent Indent57711-4 | Unique bar code number of Initial sample | C | ||
| Indent Indent Indent62323-1 | Post-discharge provider ID [Identifier] | C | 0..1 | |
| Indent Indent Indent62324-9 | Post-discharge provider name in Provider | C | 0..1 | |
| Indent Indent Indent62325-6 | Post-discharge provider practice ID | C | 0..1 | |
| Indent Indent Indent62326-4 | Post-discharge provider practice name | C | 0..1 | |
| Indent Indent Indent62327-2 | Post-discharge provider practice address | C | 0..1 | |
| Indent Indent Indent62328-0 | Post-discharge provider practice phone number | C | 0..1 | |
| Indent Indent Indent62329-8 | Birth hospital facility ID | C | 0..1 | |
| Indent Indent Indent62330-6 | Birth hospital facility name | C | 0..1 | |
| Indent Indent Indent62331-4 | Birth hospital facility address | C | 0..1 | |
| Indent Indent Indent62332-2 | Birth hospital facility phone number | C | 0..1 | |
| Indent54089-8 | Newborn screening panel American Health Information Community (AHIC) | |||
| Indent Indent73738-7 | Newborn screening test results panel - Point of Care | |||
| Indent Indent Indent54111-0 | Newborn hearing screening panel | |||
| Indent Indent Indent Indent57700-7 | Hearing loss newborn screening comment/discussion | |||
| Indent Indent Indent Indent58232-0 | Hearing loss risk indicators [Identifier] | |||
| Indent Indent Indent Indent54106-0 | Newborn hearing screen method | |||
| Indent Indent Indent Indent73741-1 | Newborn hearing screen panel - Left Ear | |||
| Indent Indent Indent Indent Indent54108-6 | Newborn hearing screen of Ear - left | |||
| Indent Indent Indent Indent Indent73740-3 | Screening duration of Ear - left | min | ||
| Indent Indent Indent Indent Indent73739-5 | Newborn hearing screen reason not performed of Ear - left | |||
| Indent Indent Indent Indent73744-5 | Newborn hearing screen panel - Right Ear | C | ||
| Indent Indent Indent Indent Indent54109-4 | Newborn hearing screen of Ear - right | R | 1..1 | |
| Indent Indent Indent Indent Indent73743-7 | Screening duration of Ear - right | C | 0..1 | min |
| Indent Indent Indent Indent Indent73742-9 | Newborn hearing screen reason not performed of Ear - right | C | 0..* | |
| Indent Indent Indent73805-4 | CCHD newborn screening panel | |||
| Indent Indent Indent Indent73700-7 | CCHD newborn screening interpretation | |||
| Indent Indent Indent Indent73696-7 | Oxygen saturation.preductal-oxygen saturation.postductal [Mass fraction difference] in Bld.preductal and Bld.postductal | % | ||
| Indent Indent Indent Indent73806-2 | Newborn age in hours | h | ||
| Indent Indent Indent Indent73699-1 | Number of prior CCHD screens [#] Qualitative | |||
| Indent Indent Indent Indent73804-7 | Oxygen saturation sensor name | |||
| Indent Indent Indent Indent73803-9 | Oxygen saturation sensor type | |||
| Indent Indent Indent Indent73802-1 | Oxygen saturation sensor wrap name | |||
| Indent Indent Indent Indent73801-3 | Oxygen saturation sensor wrap type | |||
| Indent Indent Indent Indent73800-5 | Oxygen saturation sensor wrap size | |||
| Indent Indent Indent Indent73697-5 | CCHD newborn screening protocol used [Type] | |||
| Indent Indent Indent Indent73698-3 | Reason CCHD oxygen saturation screening not performed | |||
| Indent Indent Indent Indent59407-7 | Oxygen saturation in Blood Preductal by Pulse oximetry | % | ||
| Indent Indent Indent Indent73799-9 | Heart rate Blood Preductal Pulse oximetry | /min | ||
| Indent Indent Indent Indent73798-1 | Perfusion index Blood Preductal Pulse oximetry | % | ||
| Indent Indent Indent Indent73797-3 | Signal quality Blood Preductal Pulse oximetry | |||
| Indent Indent Indent Indent73796-5 | Infant activity during preductal oxygen saturation measurement | |||
| Indent Indent Indent Indent59418-4 | Oxygen saturation in Blood Postductal by Pulse oximetry | % | ||
| Indent Indent Indent Indent73795-7 | Heart rate Blood Postductal Pulse oximetry | /min | ||
| Indent Indent Indent Indent73794-0 | Perfusion index Blood Postductal Pulse oximetry | % | ||
| Indent Indent Indent Indent73793-2 | Signal quality Blood Postductal Pulse oximetry | |||
| Indent Indent Indent Indent73792-4 | Infant activity during postductal oxygen saturation measurement | |||
| Indent Indent57794-0 | Newborn screening test results panel - Dried blood spot | C | ||
| Indent Indent Indent53261-4 | Amino acid newborn screen panel | C | ||
| Indent Indent Indent Indent46733-2 | Amino acidemias newborn screen interpretation | C | ||
| Indent Indent Indent Indent57710-6 | Amino acidemias newborn screening comment-discussion | C | ||
| Indent Indent Indent Indent57793-2 | Amino acidemia disorder suspected [Identifier] in DBS | C | ||
| Indent Indent Indent Indent46746-4 | Phenylketonuria and variants/Biopterin defects newborn screen interpretation | C | ||
| Indent Indent Indent Indent58231-2 | Phenylketonuria and variants/Biopterin defects newborn screening comment-discussion | C | ||
| Indent Indent Indent Indent46743-1 | Maple syrup urine disease newborn screen interpretation | C | ||
| Indent Indent Indent Indent58230-4 | Maple syrup urine disease newborn screening comment-discussion | C | ||
| Indent Indent Indent Indent47539-2 | 3-Methylhistidine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53232-5 | 5-Oxoproline+Pipecolate [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53394-3 | 5-Oxoproline+Pipecolate/Phenylalanine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53150-9 | Alanine+Beta Alanine+Sarcosine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53393-5 | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline+Valine/Phenylalanine+Tyrosine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53152-5 | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53153-3 | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phenylalanine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53154-1 | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent47562-4 | Arginine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent75214-7 | Arginine/Ornithine [Molar ratio] in DBS | C | {ratio} | |
| Indent Indent Indent Indent53398-4 | Arginine/Phenylalanine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53062-6 | Argininosuccinate [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53200-2 | Argininosuccinate/Arginine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53155-8 | Asparagine+Ornithine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53395-0 | Asparagine+Ornithine/Serine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53396-8 | Asparagine+Ornithine/Phenylalanine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent47573-1 | Aspartate [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent42892-0 | Citrulline [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent54092-2 | Citrulline/Arginine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53157-4 | Citrulline/Phenylalanine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53399-2 | Citrulline/Tyrosine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent47623-4 | Glutamate [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent47633-3 | Glycine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent93488-5 | Guanidinoacetate [Moles/volume] in DBS | umol/L | ||
| Indent Indent Indent Indent47643-2 | Histidine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53158-2 | Homocitrulline [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent47689-5 | Lysine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent47700-0 | Methionine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53397-6 | Methionine/Alloisoleucine+Isoleucine+Leucine+Hydroxyproline [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent53156-6 | Methionine/Phenylalanine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent75215-4 | Ornithine/Citrulline [Molar ratio] in DBS | C | {ratio} | |
| Indent Indent Indent Indent29573-3 | Phenylalanine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent35572-7 | Phenylalanine/Tyrosine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent47732-3 | Proline [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53392-7 | Proline/Phenylalanine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent47742-2 | Serine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53231-7 | Succinylacetone [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent47784-4 | Threonine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53159-0 | Tryptophan [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent35571-9 | Tyrosine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent47799-2 | Valine [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent53151-7 | Valine/Phenylalanine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent58092-8 | Acylcarnitine newborn screen panel | C | ||
| Indent Indent Indent Indent58088-6 | Acylcarnitine newborn screen interpretation | C | ||
| Indent Indent Indent Indent58093-6 | Acylcarnitine newborn screening comment-discussion | C | ||
| Indent Indent Indent Indent57084-6 | Fatty acid oxidation newborn screen panel | C | ||
| Indent Indent Indent Indent Indent46736-5 | Fatty acid oxidation defects newborn screen interpretation | C | ||
| Indent Indent Indent Indent Indent57792-4 | Fatty acid oxidation conditions suspected [Identifier] in DBS | C | ||
| Indent Indent Indent Indent Indent57709-8 | Fatty acid oxidation defects newborn screening comment-discussion | C | ||
| Indent Indent Indent Indent Indent38481-8 | Carnitine free (C0) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53233-3 | Carnitine free (C0)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent53234-1 | Carnitine free (C0)/Stearoylcarnitine (C18) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent53235-8 | Carnitine free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent53236-6 | Carnitine.free (C0)+Acetylcarnitine (C2)+Propionylcarnitine (C3)+Palmitoylcarnitine (C16)+Oleoylcarnitine (C18:1)+Stearoylcarnitine (C18)/Citrulline [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent75211-3 | Propionylcarnitine (C3)+Palmitoylcarnitine (C16) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent75212-1 | Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in DBS | C | {ratio} | |
| Indent Indent Indent Indent Indent54462-7 | Malonylcarnitine (C3-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent75213-9 | Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)/Decanoylcarnitine (C10) [Molar ratio] in DBS | C | {ratio} | |
| Indent Indent Indent Indent Indent50157-7 | Acetylcarnitine (C2) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53166-5 | Butyrylcarnitine+Isobutyrylcarnitine (C4) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53167-3 | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent53168-1 | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent53169-9 | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent50102-3 | 3-Hydroxybutyrylcarnitine (C4-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent45211-0 | Hexanoylcarnitine (C6) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53173-1 | 3-Hydroxyhexanoylcarnitine (C6-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent45207-8 | Glutarylcarnitine (C5-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53174-9 | Octenoylcarnitine (C8:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53175-6 | Octanoylcarnitine (C8) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53176-4 | Octanoylcarnitine (C8)/Acetylcarnitine (C2) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent53177-2 | Octanoylcarnitine (C8)/Decanoylcarnitine (C10) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent53178-0 | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53402-4 | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent53179-8 | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent53180-6 | Decadienoylcarnitine (C10:2) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent45198-9 | Decenoylcarnitine (C10:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent45197-1 | Decanoylcarnitine (C10) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53182-2 | 3-Hydroxydecenoylcarnitine (C10:1-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53183-0 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53403-2 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent53184-8 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent53185-5 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent53186-3 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent45200-3 | Dodecenoylcarnitine (C12:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent45199-7 | Dodecanoylcarnitine (C12) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53188-9 | 3-Hydroxydodecenoylcarnitine (C12:1-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53189-7 | 3-Hydroxydodecanoylcarnitine (C12-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53190-5 | Tetradecadienoylcarnitine (C14:2) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53191-3 | Tetradecenoylcarnitine (C14:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53192-1 | Tetradecanoylcarnitine (C14) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53193-9 | Tetradecenoylcarnitine (C14:1)/Acetylcarnitine (C2) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent53194-7 | Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent53195-4 | Tetradecenoylcarnitine (C14:1)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent70159-9 | Tetradecenoylcarnitine (C14:1)/Tetradecanoylcarnitine (C14) [Molar ratio] in DBS | C | {ratio} | |
| Indent Indent Indent Indent Indent53196-2 | 3-Hydroxytetradecadienoylcarnitine (C14:2-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53197-0 | 3-Hydroxytetradecenoylcarnitine (C14:1-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent50281-5 | 3-Hydroxytetradecanoylcarnitine (C14-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53198-8 | Palmitoleylcarnitine (C16:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53199-6 | Palmitoylcarnitine (C16) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent50121-3 | 3-Hydroxypalmitoleylcarnitine (C16:1-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent50125-4 | 3-Hydroxypalmitoylcarnitine (C16-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53201-0 | 3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent45217-7 | Linoleoylcarnitine (C18:2) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53202-8 | Oleoylcarnitine (C18:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53241-6 | Stearoylcarnitine (C18) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53400-8 | Stearoylcarnitine (C18)/Propionylcarnitine (C3) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent50109-8 | 3-Hydroxylinoleoylcarnitine (C18:2-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent50113-0 | 3-Hydroxyoleoylcarnitine (C18:1-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent50132-0 | 3-Hydroxystearoylcarnitine (C18-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53836-3 | ABCD1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |||
| Indent Indent Indent Indent57085-3 | Organic acid newborn screen panel | C | ||
| Indent Indent Indent Indent Indent46744-9 | Organic acidemias newborn screen interpretation | C | ||
| Indent Indent Indent Indent Indent57791-6 | Organic acidemia conditions suspected [Identifier] in DBS | C | ||
| Indent Indent Indent Indent Indent57708-0 | Organic acidemias defects newborn screening comment-discussion | C | ||
| Indent Indent Indent Indent Indent50157-7 | Acetylcarnitine (C2) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53237-4 | Acrylylcarnitine (C3:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53160-8 | Propionylcarnitine (C3) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53161-6 | Propionylcarnitine (C3)/Methionine [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent53162-4 | Propionylcarnitine (C3)/Carnitine.free (C0) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent53163-2 | Propionylcarnitine (C3)/Acetylcarnitine (C2) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent54462-7 | Malonylcarnitine (C3-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent67708-8 | Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent75213-9 | Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)/Decanoylcarnitine (C10) [Molar ratio] in DBS | C | {ratio} | |
| Indent Indent Indent Indent Indent53164-0 | Propionylcarnitine (C3)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent53166-5 | Butyrylcarnitine+Isobutyrylcarnitine (C4) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53167-3 | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent53168-1 | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent53169-9 | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent53170-7 | Tiglylcarnitine (C5:1) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent45207-8 | Glutarylcarnitine (C5-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent75216-2 | Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in DBS | {ratio} | ||
| Indent Indent Indent Indent Indent67701-3 | Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent67710-4 | Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent67711-2 | Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent45216-9 | Isovalerylcarnitine+Methylbutyrylcarnitine (C5) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53238-2 | Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Carnitine.free (C0) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent53239-0 | Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Acetylcarnitine (C2) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent53240-8 | Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent53401-6 | Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Octanoylcarnitine (C8) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent50106-4 | 3-Hydroxyisovalerylcarnitine (C5-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53171-5 | 3-Hydroxyisovalerylcarnitine (C5-OH)/Carnitine.free (C0) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent53172-3 | 3-Hydroxyisovalerylcarnitine (C5-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent53178-0 | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53402-4 | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent53179-8 | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent45222-7 | Methylmalonylcarnitine (C4-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent67709-6 | Methylmalonylcarnitine (C4-DC)+3-Hydroxyisovalerylcarnitine (C5-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53181-4 | Methylmalonylcarnitine (C4-DC)/3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent53183-0 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53403-2 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent53184-8 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent53185-5 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent53186-3 | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS | C | {Ratio} | |
| Indent Indent Indent Indent Indent53187-1 | Methylglutarylcarnitine (C6-DC) [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent Indent Indent53165-7 | Formiminoglutamate [Moles/volume] in DBS | C | umol/L | |
| Indent Indent Indent54078-1 | Cystic fibrosis newborn screening panel | C | ||
| Indent Indent Indent Indent46769-6 | Cystic fibrosis newborn screen interpretation | R | 1..1 | |
| Indent Indent Indent Indent57707-2 | Cystic fibrosis newborn screening comment-discussion | C | ||
| Indent Indent Indent Indent54083-1 | CFTR gene mutations found [Identifier] in DBS by Molecular genetics method Nominal | C | ||
| Indent Indent Indent Indent2077-6 | Chloride [Moles/volume] in Sweat | C | mmol/L | |
| Indent Indent Indent Indent48633-2 | Trypsinogen I Free [Mass/volume] in DBS | C | ug/L | |
| Indent Indent Indent54076-5 | Endocrine newborn screening panel | C | ||
| Indent Indent Indent Indent57086-1 | Congenital adrenal hyperplasia newborn screening panel | C | ||
| Indent Indent Indent Indent Indent46758-9 | Congenital adrenal hyperplasia newborn screen interpretation | R | 1..1 | |
| Indent Indent Indent Indent Indent57706-4 | Congenital adrenal hyperplasia newborn screening comment-discussion | C | ||
| Indent Indent Indent Indent Indent53347-1 | 11-Deoxycorticosterone [Mass/volume] in DBS | C | ng/dL | |
| Indent Indent Indent Indent Indent53338-0 | 11-Deoxycortisol [Mass/volume] in DBS | C | ug/dL | |
| Indent Indent Indent Indent Indent38473-5 | 17-Hydroxyprogesterone [Mass/volume] in DBS | C | ng/mL | |
| Indent Indent Indent Indent Indent53336-4 | 17-Hydroxyprogesterone+Androstenedione/Cortisol [Mass Ratio] in DBS | C | {ratio} | |
| Indent Indent Indent Indent Indent53341-4 | 21-Deoxycortisol [Mass/volume] in DBS | C | ug/dL | |
| Indent Indent Indent Indent Indent53343-0 | Androstenedione [Mass/volume] in DBS | C | ng/dL | |
| Indent Indent Indent Indent Indent53345-5 | Cortisol [Mass/volume] in DBS | C | ug/dL | |
| Indent Indent Indent Indent54090-6 | Thyroid newborn screening panel | C | ||
| Indent Indent Indent Indent Indent46762-1 | Congenital hypothyroidism newborn screen interpretation | R | ||
| Indent Indent Indent Indent Indent57705-6 | Congenital hypothyroidism newborn screening comment-discussion | C | ||
| Indent Indent Indent Indent Indent31144-9 | Thyroxine (T4) [Mass/volume] in DBS | C | ug/dL | |
| Indent Indent Indent Indent Indent29575-8 | Thyrotropin [Units/volume] in DBS | C | m[IU]/L | |
| Indent Indent Indent54079-9 | Galactosemia newborn screening panel | C | ||
| Indent Indent Indent Indent46737-3 | Galactosemias newborn screen interpretation | R | 1..1 | |
| Indent Indent Indent Indent57704-9 | Galactosemias newborn screening comment-discussion | C | ||
| Indent Indent Indent Indent54084-9 | Galactose [Mass/volume] in DBS | C | mg/dL | |
| Indent Indent Indent Indent33288-2 | Galactose 1 phosphate uridyl transferase [Presence] in DBS | C | ||
| Indent Indent Indent Indent42906-8 | Galactose 1 phosphate uridyl transferase [Enzymatic activity/volume] in DBS | C | nmol/h/mL | |
| Indent Indent Indent Indent40842-7 | Galactose 1 phosphate [Mass/volume] in DBS | C | mg/dL | |
| Indent Indent Indent54081-5 | Hemoglobinopathies newborn screening panel | C | ||
| Indent Indent Indent Indent64116-7 | Hemoglobin observations newborn screening panel | |||
| Indent Indent Indent Indent Indent64122-5 | Hemoglobins that can be presumptively identified based on available controls in DBS | C | ||
| Indent Indent Indent Indent Indent64117-5 | Most predominant hemoglobin in DBS | C | ||
| Indent Indent Indent Indent Indent64118-3 | Second most predominant hemoglobin in DBS | C | ||
| Indent Indent Indent Indent Indent64119-1 | Third most predominant hemoglobin in DBS | C | ||
| Indent Indent Indent Indent Indent64120-9 | Fourth most predominant hemoglobin in DBS | C | ||
| Indent Indent Indent Indent Indent64121-7 | Fifth most predominant hemoglobin in DBS | C | ||
| Indent Indent Indent Indent46740-7 | Hemoglobin disorders newborn screen interpretation | R | 1..1 | |
| Indent Indent Indent Indent57703-1 | Hemoglobin disorders newborn screening comment-discussion | C | ||
| Indent Indent Indent Indent71592-0 | Hemoglobinopathies conditions suspected [Identifier] in DBS | C | ||
| Indent Indent Indent Indent54072-4 | Hemoglobin A/Hemoglobin.total in DBS | C | % | |
| Indent Indent Indent Indent54069-0 | Hemoglobin Barts/Hemoglobin.total in DBS | C | % | |
| Indent Indent Indent Indent54073-2 | Hemoglobin C/Hemoglobin.total in DBS | C | % | |
| Indent Indent Indent Indent54070-8 | Hemoglobin D/Hemoglobin.total in DBS | C | % | |
| Indent Indent Indent Indent54071-6 | Hemoglobin E/Hemoglobin.total in DBS | C | % | |
| Indent Indent Indent Indent54074-0 | Hemoglobin F/Hemoglobin.total in DBS | C | % | |
| Indent Indent Indent Indent54068-2 | Hemoglobin O - Arab/Hemoglobin.total in DBS | C | % | |
| Indent Indent Indent Indent56476-5 | Hemoglobin S/Hemoglobin.total in DBS | C | % | |
| Indent Indent Indent54082-3 | Infectious diseases newborn screening panel | C | ||
| Indent Indent Indent Indent57702-3 | Infectious diseases newborn screen interpretation | R | 1..1 | |
| Indent Indent Indent Indent57701-5 | Infectious diseases newborn screening comment-discussion | C | ||
| Indent Indent Indent Indent54086-4 | HIV 1+2 IgG Ab [Presence] in DBS | C | ||
| Indent Indent Indent Indent54087-2 | Toxoplasma gondii IgG Ab [Presence] in DBS | C | ||
| Indent Indent Indent Indent54088-0 | Toxoplasma gondii IgM Ab [Presence] in DBS | C | ||
| Indent Indent Indent57087-9 | Biotinidase newborn screening panel | C | ||
| Indent Indent Indent Indent46761-3 | Biotinidase deficiency newborn screen interpretation | R | 1..1 | |
| Indent Indent Indent Indent57699-1 | Biotinidase deficiency newborn screening comment-discussion | C | ||
| Indent Indent Indent Indent38478-4 | Biotinidase [Presence] in DBS | C | ||
| Indent Indent Indent Indent75217-0 | Biotinidase [Enzymatic activity/volume] in DBS | C | nmol/mL/min | |
| Indent Indent Indent58091-0 | Glucose-6-Phosphate dehydrogenase newborn screen panel | C | ||
| Indent Indent Indent Indent58089-4 | Glucose-6-Phosphate dehydrogenase newborn screen interpretation | C | ||
| Indent Indent Indent Indent58090-2 | Glucose-6-Phosphate dehydrogenase newborn screening comment-discussion | C | ||
| Indent Indent Indent Indent33287-4 | Glucose-6-Phosphate dehydrogenase [Presence] in DBS | C | ||
| Indent Indent Indent62300-9 | Lysosomal storage disorders newborn screening panel | C | ||
| Indent Indent Indent Indent62301-7 | Lysosomal storage disorders newborn screen interpretation | C | 0..1 | |
| Indent Indent Indent Indent62303-3 | Lysosomal storage disorders newborn screening comment-discussion | C | 0..1 | |
| Indent Indent Indent Indent62302-5 | Lysosomal storage disorders suspected [Identifier] in DBS | C | 0..1 | |
| Indent Indent Indent Indent62304-1 | Fabry disease newborn screening panel | C | ||
| Indent Indent Indent Indent Indent62305-8 | Fabry disease newborn screen interpretation | R | 0..1 | |
| Indent Indent Indent Indent Indent62306-6 | Fabry disease newborn screening comment-discussion | C | 0..1 | |
| Indent Indent Indent Indent Indent55908-8 | Alpha galactosidase A [Enzymatic activity/volume] in DBS | C | 0..1 | umol/L/h |
| Indent Indent Indent Indent62307-4 | Krabbe disease newborn screening panel | C | ||
| Indent Indent Indent Indent Indent62308-2 | Krabbe disease newborn screen interpretation | R | 0..1 | |
| Indent Indent Indent Indent Indent62309-0 | Krabbe disease newborn screening comment-discussion | C | 0..1 | |
| Indent Indent Indent Indent Indent62310-8 | Galactosylceramidase [Enzymatic activity/volume] in DBS | C | 0..1 | umol/L/h |
| Indent Indent Indent Indent62311-6 | Gaucher disease newborn screening panel | C | ||
| Indent Indent Indent Indent Indent62312-4 | Gaucher disease newborn screen interpretation | R | 0..1 | |
| Indent Indent Indent Indent Indent62313-2 | Gaucher disease newborn screening comment-discussion | C | 0..1 | |
| Indent Indent Indent Indent Indent55917-9 | Glucosylceramidase [Enzymatic activity/volume] in DBS | C | 0..* | umol/L/h |
| Indent Indent Indent Indent79563-3 | Mucopolysaccharidosis type I newborn screening panel | |||
| Indent Indent Indent Indent Indent55909-6 | Alpha-L-iduronidase [Enzymatic activity/volume] in DBS | umol/h/L | ||
| Indent Indent Indent Indent Indent79564-1 | Mucopolysaccharidosis type I newborn screen interpretation | |||
| Indent Indent Indent Indent Indent79565-8 | Mucopolysaccharidosis type I newborn screening comment-discussion | |||
| Indent Indent Indent Indent62315-7 | Niemann Pick disease A/B newborn screening panel | C | ||
| Indent Indent Indent Indent Indent62318-1 | Niemann Pick disease A/B newborn screen interpretation | R | 0..1 | |
| Indent Indent Indent Indent Indent62319-9 | Niemann Pick disease A/B newborn screening comment-discussion | C | 0..1 | |
| Indent Indent Indent Indent Indent62316-5 | Acid sphingomyelinase [Enzymatic activity/volume] in DBS | C | 0..1 | umol/L/h |
| Indent Indent Indent Indent63414-7 | Pompe disease newborn screening panel | C | ||
| Indent Indent Indent Indent Indent63415-4 | Pompe disease newborn screen interpretation | R | 0..* | |
| Indent Indent Indent Indent Indent63416-2 | Pompe disease newborn screening comment-discussion | C | 0..* | |
| Indent Indent Indent Indent Indent55827-0 | Acid alpha glucosidase [Enzymatic activity/volume] in DBS | C | 0..* | umol/L/h |
| Indent Indent Indent62333-0 | Severe combined immunodeficiency (SCID) newborn screening panel | C | ||
| Indent Indent Indent Indent62321-5 | Severe combined immunodeficiency newborn screen interpretation | R | 1..1 | |
| Indent Indent Indent Indent62322-3 | Severe combined immunodeficiency newborn screening comment-discussion | C | 0..1 | |
| Indent Indent Indent Indent62320-7 | T-cell receptor excision circle [#/volume] in DBS by NAA with probe detection | C | 0..1 | {copies} |
| Indent Indent Indent Indent92006-6 | T-cell receptor excision circle [Cycle Threshold #] in DBS | {Ct_value} | ||
| Indent Indent Indent Indent92007-4 | T-cell receptor excision circle [Z-score] in DBS | {Zscore} | ||
| Indent Indent Indent Indent92008-2 | T-cell receptor excision circle [Multiple of the median] in DBS | {M.o.M} | ||
| Indent Indent Indent92005-8 | Spinal muscular atrophy newborn screening panel | |||
| Indent Indent Indent Indent92004-1 | Spinal muscular atrophy newborn screen interpretation | |||
| Indent Indent Indent Indent92003-3 | Spinal muscular atrophy newborn screening comment-discussion | |||
| Indent Indent Indent Indent92002-5 | SMN1 gene [Cycle Threshold #] in DBS by NAA with probe detection | {Ct_value} | ||
| Indent Indent Indent Indent97654-8 | SMN2 gene copy number in Blood or Tissue by Molecular genetics method | {#} | ||
| Indent Indent Indent85267-3 | X-linked adrenoleukodystrophy (X-ALD) newborn screening panel | C | 0..1 | |
| Indent Indent Indent Indent85269-9 | X-linked adrenoleukodystrophy newborn screen interpretation | C | 0..* | |
| Indent Indent Indent Indent85268-1 | X-linked adrenoleukodystrophy newborn screening comment-discussion | C | 0..* | |
| Indent Indent Indent Indent79321-6 | Lysophosphatidylcholine(26:0) [Moles/volume] in DBS | O | 0..1 | umol/L |
| Indent Indent Indent57128-1 | Newborn Screening Report summary panel | C | 0..1 | |
| Indent Indent Indent Indent57721-3 | Reason for lab test in Dried blood spot | R | 1..1 | |
| Indent Indent Indent Indent57718-9 | Sample quality of Dried blood spot | R | 1..1 | |
| Indent Indent Indent Indent57130-7 | Newborn screening report - overall interpretation | C | 1..* | |
| Indent Indent Indent Indent57131-5 | Newborn conditions with positive markers [Identifier] in DBS | R | 1..* | |
| Indent Indent Indent Indent57720-5 | Newborn conditions with equivocal markers [Identifier] in DBS | R | 1..* | |
| Indent Indent Indent Indent57724-7 | Newborn screening short narrative summary | O | 0..1 | |
| Indent Indent Indent Indent57129-9 | Full newborn screening summary report for display or printing | O | 0..1 | |
| Indent Indent Indent Indent57719-7 | Conditions tested for in this newborn screening study [Identifier] in DBS | R | 1..* | |
| Indent Indent Indent Indent69969-4 | Newborn screening report overall laboratory comment | O | 0..* | |
| Indent Indent Indent57717-1 | Newborn screen card data panel | C | ||
| Indent Indent Indent Indent57716-3 | State printed on filter paper card [Identifier] in NBS card | R | ||
| Indent Indent Indent Indent79566-6 | Collection method - DBS | O | ||
| Indent Indent Indent Indent8339-4 | Birthweight | R | [lb_av];kg;g | |
| Indent Indent Indent Indent58229-6 | Body weight Measured --when specimen taken | O | [lb_av];kg | |
| Indent Indent Indent Indent57715-5 | Time of birth | R | {clock_time} | |
| Indent Indent Indent Indent73806-2 | Newborn age in hours | O | h | |
| Indent Indent Indent Indent57722-1 | Birth plurality of Pregnancy | R | ||
| Indent Indent Indent Indent57714-8 | Obstetric estimation of gestational age | R | wk | |
| Indent Indent Indent Indent57713-0 | Infant factors that affect newborn screening interpretation | R | 1..* | |
| Indent Indent Indent Indent67703-9 | Other infant factors that affect newborn screening interpretation Narrative | C | 0..* | |
| Indent Indent Indent Indent67706-2 | Maternal factors that affect newborn screening interpretation | O | 0..* | |
| Indent Indent Indent Indent67707-0 | Other maternal factors that affect newborn screening interpretation Narrative | C | 0..* | |
| Indent Indent Indent Indent77739-1 | Mother's Hepatitis B virus surface Ag status | C | ||
| Indent Indent Indent Indent57712-2 | Highest level of education Mother | O | 0..1 | |
| Indent Indent Indent Indent67704-7 | Feeding types | R | 1..* | |
| Indent Indent Indent Indent67705-4 | Other feeding types Narrative | C | 0..* | |
| Indent Indent Indent Indent79569-0 | Blood product given [Type] | C | ||
| Indent Indent Indent Indent62317-3 | Date of last blood product transfusion | O | 0..1 | |
| Indent Indent Indent Indent58232-0 | Hearing loss risk indicators [Identifier] | C | 1..* | |
| Indent Indent Indent Indent54106-0 | Newborn hearing screen method | C | ||
| Indent Indent Indent Indent54108-6 | Newborn hearing screen of Ear - left | C | ||
| Indent Indent Indent Indent54109-4 | Newborn hearing screen of Ear - right | C | ||
| Indent Indent Indent Indent73700-7 | CCHD newborn screening interpretation | C | ||
| Indent Indent Indent Indent73698-3 | Reason CCHD oxygen saturation screening not performed | C | ||
| Indent Indent Indent Indent57723-9 | Unique bar code number of Current sample | R | ||
| Indent Indent Indent Indent57711-4 | Unique bar code number of Initial sample | C | ||
| Indent Indent Indent Indent62323-1 | Post-discharge provider ID [Identifier] | C | 0..1 | |
| Indent Indent Indent Indent62324-9 | Post-discharge provider name in Provider | C | 0..1 | |
| Indent Indent Indent Indent62325-6 | Post-discharge provider practice ID | C | 0..1 | |
| Indent Indent Indent Indent62326-4 | Post-discharge provider practice name | C | 0..1 | |
| Indent Indent Indent Indent62327-2 | Post-discharge provider practice address | C | 0..1 | |
| Indent Indent Indent Indent62328-0 | Post-discharge provider practice phone number | C | 0..1 | |
| Indent Indent Indent Indent62329-8 | Birth hospital facility ID | C | 0..1 | |
| Indent Indent Indent Indent62330-6 | Birth hospital facility name | C | 0..1 | |
| Indent Indent Indent Indent62331-4 | Birth hospital facility address | C | 0..1 | |
| Indent Indent Indent Indent62332-2 | Birth hospital facility phone number | C | 0..1 | |
| Indent104196-1 | Creatine/Creatinine [Molar ratio] in DBS | mmol/mol{creat} | ||
| Indent104195-3 | Guanidinoacetate/Creatinine [Molar ratio] in DBS | umol/mol{creat} | ||
| Indent104194-6 | Creatine [Moles/volume] in DBS | mmol/L | ||
| Indent93488-5 | Guanidinoacetate [Moles/volume] in DBS | umol/L | ||
| Indent104193-8 | Guanidinoacetate methyltransferase deficiency comment [Text] in DBS Narrative | |||
| Indent104192-0 | Guanidinoacetate methyltransferase deficiency newborn screen interpretation |
Fully-Specified Name
- Component
- Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- GAMT deficiency newborn screen pnl DBS
- Display Name
- Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel (DBS)
- Consumer Name Alpha Get Info
- Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.77
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de detección de deficiencia de guanidinoacetato metiltransferasa (GAMT) en recién nacidos: |
| it-IT | Italian (Italy) | Deficit di guanidinoacetato-metiltransferasi (GAMT), panel screening neonatale: Synonyms: Chimica Panel screening neonatale Panel screening neonatale di Deficit di guanidinoacetato-metiltransferasi (GAMT) Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | panel voor screening van pasgeborene op deficiëntie van guanidinoacetaatmethyltransferase: |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=104191-2 - Questionnaire definition
- https:
//fhir.loinc.org/Questionnaire/?url=http: //loinc.org/q/104191-2
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