82240-3
Chromosome region 16p13.3 deletion in Amniotic fluid or Chorionic villus sample by FISH
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Part Descriptions
LP208592-8 Chromosome region 16p13.3
Rubinstein-Taybi syndrome is an autosomal dominant condition that has been linked with various genetic variants. Some cases of Rubinstein-Taybi are due to deletions in the 16p chromosome region, which deletion includes the loss of the CREBBP gene. The CREBBP gene encodes CREB binding protein, which helps regulate cell growth and division and is essential for normal fetal development. A small percentage are caused by mutations in the EP300 gene, located on chromosome 22q13.2, which also plays a role in fetal growth and development. This syndrome is associated with short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes, and some patients may also have eye abnormalities, heart and kidney defects, dental problems, and obesity. Patients with Rubinstein-Taybi are at increased risk of developing noncancerous and cancerous tumors, including certaintypes of brain tumors and leukemia. Infants born with a severe form of this disorder usually only survive until early childhood. Rubinstein-Taybi syndrome occurs in approximately 1 in 100,000 to 125,000 live births. [MedlinePlus Condition: rubinstein-taybi-syndrome]
Source: Regenstrief LOINC, GHR Condition: Rubinstein-Taybi syndrome
LP62864-1 FISH
FISH (fluorescence in situ hybridization) is a cytogenetic technique used to detect and localize the presence or absence of specific DNA sequences on chromosomes. FISH uses fluorescent probes that bind to only those parts of the chromosome with which they show a high degree of sequence similarity. Fluorescence microscopy can be used to find out where the fluorescent probe bound to the chromosomes. FISH is often used for finding specific features in DNA for use in genetic counseling, medicine, and species identification. FISH can also be used to detect and localize specific mRNAs within tissue samples. In this context, it can help define the spatial-temporal patterns of gene expression within cells and tissues.
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Source: Wikipedia, FISH
Fully-Specified Name
- Component
- Chromosome region 16p13.3 deletion
- Property
- Find
- Time
- Pt
- System
- Amnio fld/CVS
- Scale
- Doc
- Method
- FISH
Additional Names
- Short Name
- Chr 16p13.3 Del Amn/CVS FISH
- Display Name
- 16p13.3 del FISH Doc (Amnio fld/CVS)
- Consumer Name Alpha Get Info
- 16p13.3 deletion analysis, Amnio Fld/CVS
Associated Observations
81247-9 Master HL7 genetic variant reporting panel
| LOINC | Name | R/O/C | Cardinality | Example UCUM Units |
|---|---|---|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel | |||
| Indent81306-3 | Variables that apply to the overall study | |||
| Indent Indent53577-3 | Reason for study | O | 0..* | |
| Indent Indent51967-8 | Genetic disease assessed [ID] | O | 0..* | |
| Indent Indent51963-7 | Medication assessed [ID] | C | 0..* | |
| Indent Indent48018-6 | Gene studied [ID] | C | 0..* | |
| Indent Indent36908-2 | Gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | C | 0..* | |
| Indent Indent51959-5 | Range(s) of DNA sequence examined | C | 0..* | |
| Indent Indent81293-3 | Description of ranges of DNA sequences examined | C | 0..1 | |
| Indent Indent51968-6 | Discrete variation analysis overall interpretation | R | 1..1 | |
| Indent Indent83006-7 | Deletion-duplication overall interpretation | C | ||
| Indent Indent51969-4 | Genetic analysis report | O | 0..1 | |
| Indent Indent81291-7 | Variant ISCN | C | ||
| Indent Indent62374-4 | Human reference sequence assembly version | C | 0..1 | |
| Indent Indent81303-0 | HGVS version [ID] | O | 0..1 | |
| Indent Indent82115-7 | dbSNP version [ID] | O | 0..1 | |
| Indent Indent83007-5 | COSMIC version [ID] | O | ||
| Indent Indent83008-3 | ClinVar version [ID] | O | ||
| Indent81250-3 | Discrete genetic variant panel | 0..n | ||
| Indent Indent83005-9 | Variant category | |||
| Indent Indent81252-9 | Discrete genetic variant | C | 0..1 | |
| Indent Indent48018-6 | Gene studied [ID] | C | 0..1 | |
| Indent Indent51958-7 | Transcript reference sequence [ID] | C | 0..1 | |
| Indent Indent48004-6 | DNA change (c.HGVS) | C | 0..1 | |
| Indent Indent48005-3 | Amino acid change (pHGVS) | C | 0..1 | |
| Indent Indent48019-4 | DNA change type | O | 0..1 | |
| Indent Indent48006-1 | Amino acid change [Type] | O | 0..1 | |
| Indent Indent48013-7 | Genomic reference sequence [ID] | C | 0..1 | |
| Indent Indent81290-9 | Genomic DNA change (gHGVS) | C | ||
| Indent Indent69547-8 | Genomic ref allele [ID] | C | 0..1 | |
| Indent Indent81254-5 | Genomic allele start-end | C | 0..1 | |
| Indent Indent69551-0 | Genomic alt allele [ID] | C | 0..1 | |
| Indent Indent84414-2 | Haplotype name | O | ||
| Indent Indent81255-2 | dbSNP [ID] | O | 0..1 | |
| Indent Indent81257-8 | CIGAR [ID] | O | 0..1 | |
| Indent Indent48001-2 | Cytogenetic (chromosome) location | O | 0..1 | |
| Indent Indent48002-0 | Genomic source class [Type] | O | 0..1 | |
| Indent Indent81304-8 | Variant analysis method [Type] | O | ||
| Indent Indent53037-8 | Genetic variation clinical significance [Imp] | O | 0..1 | |
| Indent Indent69548-6 | Genetic variant assessment | O | ||
| Indent Indent81259-4 | Associated phenotype | O | 0..1 | |
| Indent Indent53034-5 | Allelic state | C | 0..1 | |
| Indent Indent81258-6 | Sample variant allelic frequency [NFr] | O | 0..1 | % |
| Indent Indent82121-5 | Allelic read depth | O | 0..1 | {#} |
| Indent Indent82120-7 | Allelic phase | O | 0..1 | |
| Indent Indent82309-6 | Basis for allelic phase [Type] | O | ||
| Indent81297-4 | Structural variant panel | |||
| Indent Indent82155-3 | Genomic structural variant copy number | {#} | ||
| Indent Indent81299-0 | Structural variant reported arrCGH [Ratio] | C | 0..1 | {Ratio} |
| Indent Indent81300-6 | Structural variant [Length] | O | 0..1 | {#} |
| Indent Indent81301-4 | Structural variant outer start and end | O | 0..1 | {Range} |
| Indent Indent81302-2 | Structural variant inner start and end | O | 0..1 | {Range} |
| Indent81251-1 | Complex genetic variant panel | 0..n | ||
| Indent Indent81260-2 | Complex genetic variant [ID] | C | 0..1 | |
| Indent Indent81262-8 | Complex variant HGVS name | C | 0..1 | |
| Indent Indent81263-6 | Complex variant type | C | 0..1 | |
| Indent Indent81259-4 | Associated phenotype | O | 0..1 | |
| Indent Indent53037-8 | Genetic variation clinical significance [Imp] | O | 0..1 | |
| Indent Indent53034-5 | Allelic state | O | 0..1 | |
| Indent Indent82309-6 | Basis for allelic phase [Type] | O | ||
| Indent Indent81250-3 | Discrete genetic variant panel | 0..n | ||
| Indent Indent Indent83005-9 | Variant category | |||
| Indent Indent Indent81252-9 | Discrete genetic variant | C | 0..1 | |
| Indent Indent Indent48018-6 | Gene studied [ID] | C | 0..1 | |
| Indent Indent Indent51958-7 | Transcript reference sequence [ID] | C | 0..1 | |
| Indent Indent Indent48004-6 | DNA change (c.HGVS) | C | 0..1 | |
| Indent Indent Indent48005-3 | Amino acid change (pHGVS) | C | 0..1 | |
| Indent Indent Indent48019-4 | DNA change type | O | 0..1 | |
| Indent Indent Indent48006-1 | Amino acid change [Type] | O | 0..1 | |
| Indent Indent Indent48013-7 | Genomic reference sequence [ID] | C | 0..1 | |
| Indent Indent Indent81290-9 | Genomic DNA change (gHGVS) | C | ||
| Indent Indent Indent69547-8 | Genomic ref allele [ID] | C | 0..1 | |
| Indent Indent Indent81254-5 | Genomic allele start-end | C | 0..1 | |
| Indent Indent Indent69551-0 | Genomic alt allele [ID] | C | 0..1 | |
| Indent Indent Indent84414-2 | Haplotype name | O | ||
| Indent Indent Indent81255-2 | dbSNP [ID] | O | 0..1 | |
| Indent Indent Indent81257-8 | CIGAR [ID] | O | 0..1 | |
| Indent Indent Indent48001-2 | Cytogenetic (chromosome) location | O | 0..1 | |
| Indent Indent Indent48002-0 | Genomic source class [Type] | O | 0..1 | |
| Indent Indent Indent81304-8 | Variant analysis method [Type] | O | ||
| Indent Indent Indent53037-8 | Genetic variation clinical significance [Imp] | O | 0..1 | |
| Indent Indent Indent69548-6 | Genetic variant assessment | O | ||
| Indent Indent Indent81259-4 | Associated phenotype | O | 0..1 | |
| Indent Indent Indent53034-5 | Allelic state | C | 0..1 | |
| Indent Indent Indent81258-6 | Sample variant allelic frequency [NFr] | O | 0..1 | % |
| Indent Indent Indent82121-5 | Allelic read depth | O | 0..1 | {#} |
| Indent Indent Indent82120-7 | Allelic phase | O | 0..1 | |
| Indent Indent Indent82309-6 | Basis for allelic phase [Type] | O | ||
| Indent82118-1 | Pharmacogenomics result panel | |||
| Indent Indent48018-6 | Gene studied [ID] | 1..* | ||
| Indent Indent84413-4 | Genotype display name | |||
| Indent Indent53040-2 | Genetic variation's effect on drug metabolism | C | 0..1 | |
| Indent Indent51961-1 | Genetic variation's effect on drug efficacy | C | 0..1 | |
| Indent Indent83009-1 | Genetic variation's effect on high-risk allele | |||
| Indent Indent82117-3 | Medication usage implications panel | O | 0..* | |
| Indent Indent Indent51963-7 | Medication assessed [ID] | R | 1..* | |
| Indent Indent Indent82116-5 | Medication usage suggestion [Type] | C | 1..1 | |
| Indent Indent Indent83010-9 | Medication usage suggestion [Narrative] | C | ||
| Indent83011-7 | Haplotype definition panel | |||
| Indent Indent48018-6 | Gene studied [ID] | C | 0..1 | |
| Indent Indent84414-2 | Haplotype name | O | ||
| Indent Indent81250-3 | Discrete genetic variant panel | 0..n | ||
| Indent Indent Indent83005-9 | Variant category | |||
| Indent Indent Indent81252-9 | Discrete genetic variant | C | 0..1 | |
| Indent Indent Indent48018-6 | Gene studied [ID] | C | 0..1 | |
| Indent Indent Indent51958-7 | Transcript reference sequence [ID] | C | 0..1 | |
| Indent Indent Indent48004-6 | DNA change (c.HGVS) | C | 0..1 | |
| Indent Indent Indent48005-3 | Amino acid change (pHGVS) | C | 0..1 | |
| Indent Indent Indent48019-4 | DNA change type | O | 0..1 | |
| Indent Indent Indent48006-1 | Amino acid change [Type] | O | 0..1 | |
| Indent Indent Indent48013-7 | Genomic reference sequence [ID] | C | 0..1 | |
| Indent Indent Indent81290-9 | Genomic DNA change (gHGVS) | C | ||
| Indent Indent Indent69547-8 | Genomic ref allele [ID] | C | 0..1 | |
| Indent Indent Indent81254-5 | Genomic allele start-end | C | 0..1 | |
| Indent Indent Indent69551-0 | Genomic alt allele [ID] | C | 0..1 | |
| Indent Indent Indent84414-2 | Haplotype name | O | ||
| Indent Indent Indent81255-2 | dbSNP [ID] | O | 0..1 | |
| Indent Indent Indent81257-8 | CIGAR [ID] | O | 0..1 | |
| Indent Indent Indent48001-2 | Cytogenetic (chromosome) location | O | 0..1 | |
| Indent Indent Indent48002-0 | Genomic source class [Type] | O | 0..1 | |
| Indent Indent Indent81304-8 | Variant analysis method [Type] | O | ||
| Indent Indent Indent53037-8 | Genetic variation clinical significance [Imp] | O | 0..1 | |
| Indent Indent Indent69548-6 | Genetic variant assessment | O | ||
| Indent Indent Indent81259-4 | Associated phenotype | O | 0..1 | |
| Indent Indent Indent53034-5 | Allelic state | C | 0..1 | |
| Indent Indent Indent81258-6 | Sample variant allelic frequency [NFr] | O | 0..1 | % |
| Indent Indent Indent82121-5 | Allelic read depth | O | 0..1 | {#} |
| Indent Indent Indent82120-7 | Allelic phase | O | 0..1 | |
| Indent Indent Indent82309-6 | Basis for allelic phase [Type] | O |
Basic Attributes
- Class
- MOLPATH.DELDUP
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.65
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Región cromosómica 16p13.3 Deleción: |
| es-MX | Spanish (Mexico) | Deleción de la región cromosómica 16p13.3: |
| fr-FR | French (France) | Chromosome région 16p13.3 délétion: |
| it-IT | Italian (Italy) | Regione cromosomica 16p13.3 Delezione: Synonyms: Campione di villi coriali Delezione o duplicazione genica Ibridazione in situ fluorescente (FISH) Liquido amniotico Osservazione Patologia molecolare Prelievo del liquido amniotico o dei villi coriali Punto nel tempo (episodio) |
| pl-PL | Polish (Poland) | Region chromosomowy 16p13.3 delecja: Synonyms: Delecja prążka 13.3 krótkiego ramienia chromosomu 16 |
| zh-CN | Chinese (China) | 染色体区域 16p13.3 缺失: Synonyms: Fluorescent in situ hybridization; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=82240-3
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