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. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, FISH

LOINC Names Get Info

Fully-Specified Name: Chromosome region 16p13.3 deletion:Find:Pt:Amnio fld/CVS:Doc:FISH
Long Common Name: Chromosome region 16p13.3 deletion in Amniotic fluid or Chorionic villus sample by FISH
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

Part Model Get Info

Component
Chromosome region 16p13.3 deletion
LP228009-9
- Analyte
  Chromosome region 16p13.3 deletion
  LP228009-9
  - Component Numerator
    Chromosome region 16p13.3 deletion
    LP228009-9
    - Component Numerator Core
      Chromosome region 16p13.3
      LP208592-8
    - Component Numerator Core Suffix
      deletion
      LP29253-9
  - Component Denominator
    NULL
    - Component Denominator Core
      NULL
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
Find
LP6813-2
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Amnio fld/CVS
LP185743-4
- System Core
  Amnio fld/CVS
  LP185743-4
- Super System
  NULL
Scale
Doc
LP32888-7
Method
FISH
LP62864-1

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
IndentIndent53577-3	Reason for study	O	0..*
IndentIndent51967-8	Genetic disease assessed [ID]	O	0..*
IndentIndent51963-7	Medication assessed [ID]	C	0..*
IndentIndent48018-6	Gene studied [ID]	C	0..*
IndentIndent36908-2	Gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal	C	0..*
IndentIndent51959-5	Range(s) of DNA sequence examined	C	0..*
IndentIndent81293-3	Description of ranges of DNA sequences examined	C	0..1
IndentIndent51968-6	Discrete variation analysis overall interpretation	R	1..1
IndentIndent83006-7	Deletion-duplication overall interpretation	C
IndentIndent51969-4	Genetic analysis report	O	0..1
IndentIndent81291-7	Variant ISCN	C
IndentIndent62374-4	Human reference sequence assembly version	C	0..1
IndentIndent81303-0	HGVS version [ID]	O	0..1
IndentIndent82115-7	dbSNP version [ID]	O	0..1
IndentIndent83007-5	COSMIC version [ID]	O
IndentIndent83008-3	ClinVar version [ID]	O
Indent81250-3	Discrete genetic variant panel		0..n
IndentIndent83005-9	Variant category
IndentIndent81252-9	Discrete genetic variant	C	0..1
IndentIndent48018-6	Gene studied [ID]	C	0..1
IndentIndent51958-7	Transcript reference sequence [ID]	C	0..1
IndentIndent48004-6	DNA change (c.HGVS)	C	0..1
IndentIndent48005-3	Amino acid change (pHGVS)	C	0..1
IndentIndent48019-4	DNA change type	O	0..1
IndentIndent48006-1	Amino acid change [Type]	O	0..1
IndentIndent48013-7	Genomic reference sequence [ID]	C	0..1
IndentIndent81290-9	Genomic DNA change (gHGVS)	C
IndentIndent69547-8	Genomic ref allele [ID]	C	0..1
IndentIndent81254-5	Genomic allele start-end	C	0..1
IndentIndent69551-0	Genomic alt allele [ID]	C	0..1
IndentIndent84414-2	Haplotype name	O
IndentIndent81255-2	dbSNP [ID]	O	0..1
IndentIndent81257-8	CIGAR [ID]	O	0..1
IndentIndent48001-2	Cytogenetic (chromosome) location	O	0..1
IndentIndent48002-0	Genomic source class [Type]	O	0..1
IndentIndent81304-8	Variant analysis method [Type]	O
IndentIndent53037-8	Genetic variation clinical significance [Imp]	O	0..1
IndentIndent69548-6	Genetic variant assessment	O
IndentIndent81259-4	Associated phenotype	O	0..1
IndentIndent53034-5	Allelic state	C	0..1
IndentIndent81258-6	Sample variant allelic frequency [NFr]	O	0..1	%
IndentIndent82121-5	Allelic read depth	O	0..1	{#}
IndentIndent82120-7	Allelic phase	O	0..1
IndentIndent82309-6	Basis for allelic phase [Type]	O
Indent81297-4	Structural variant panel
IndentIndent82155-3	Genomic structural variant copy number			{#}
IndentIndent81299-0	Structural variant reported arrCGH [Ratio]	C	0..1	{Ratio}
IndentIndent81300-6	Structural variant [Length]	O	0..1	{#}
IndentIndent81301-4	Structural variant outer start and end	O	0..1	{Range}
IndentIndent81302-2	Structural variant inner start and end	O	0..1	{Range}
Indent81251-1	Complex genetic variant panel		0..n
IndentIndent81260-2	Complex genetic variant [ID]	C	0..1
IndentIndent81262-8	Complex variant HGVS name	C	0..1
IndentIndent81263-6	Complex variant type	C	0..1
IndentIndent81259-4	Associated phenotype	O	0..1
IndentIndent53037-8	Genetic variation clinical significance [Imp]	O	0..1
IndentIndent53034-5	Allelic state	O	0..1
IndentIndent82309-6	Basis for allelic phase [Type]	O
IndentIndent81250-3	Discrete genetic variant panel		0..n
IndentIndentIndent83005-9	Variant category
IndentIndentIndent81252-9	Discrete genetic variant	C	0..1
IndentIndentIndent48018-6	Gene studied [ID]	C	0..1
IndentIndentIndent51958-7	Transcript reference sequence [ID]	C	0..1
IndentIndentIndent48004-6	DNA change (c.HGVS)	C	0..1
IndentIndentIndent48005-3	Amino acid change (pHGVS)	C	0..1
IndentIndentIndent48019-4	DNA change type	O	0..1
IndentIndentIndent48006-1	Amino acid change [Type]	O	0..1
IndentIndentIndent48013-7	Genomic reference sequence [ID]	C	0..1
IndentIndentIndent81290-9	Genomic DNA change (gHGVS)	C
IndentIndentIndent69547-8	Genomic ref allele [ID]	C	0..1
IndentIndentIndent81254-5	Genomic allele start-end	C	0..1
IndentIndentIndent69551-0	Genomic alt allele [ID]	C	0..1
IndentIndentIndent84414-2	Haplotype name	O
IndentIndentIndent81255-2	dbSNP [ID]	O	0..1
IndentIndentIndent81257-8	CIGAR [ID]	O	0..1
IndentIndentIndent48001-2	Cytogenetic (chromosome) location	O	0..1
IndentIndentIndent48002-0	Genomic source class [Type]	O	0..1
IndentIndentIndent81304-8	Variant analysis method [Type]	O
IndentIndentIndent53037-8	Genetic variation clinical significance [Imp]	O	0..1
IndentIndentIndent69548-6	Genetic variant assessment	O
IndentIndentIndent81259-4	Associated phenotype	O	0..1
IndentIndentIndent53034-5	Allelic state	C	0..1
IndentIndentIndent81258-6	Sample variant allelic frequency [NFr]	O	0..1	%
IndentIndentIndent82121-5	Allelic read depth	O	0..1	{#}
IndentIndentIndent82120-7	Allelic phase	O	0..1
IndentIndentIndent82309-6	Basis for allelic phase [Type]	O
Indent82118-1	Pharmacogenomics result panel
IndentIndent48018-6	Gene studied [ID]		1..*
IndentIndent84413-4	Genotype display name
IndentIndent53040-2	Genetic variation's effect on drug metabolism	C	0..1
IndentIndent51961-1	Genetic variation's effect on drug efficacy	C	0..1
IndentIndent83009-1	Genetic variation's effect on high-risk allele
IndentIndent82117-3	Medication usage implications panel	O	0..*
IndentIndentIndent51963-7	Medication assessed [ID]	R	1..*
IndentIndentIndent82116-5	Medication usage suggestion [Type]	C	1..1
IndentIndentIndent83010-9	Medication usage suggestion [Narrative]	C
Indent83011-7	Haplotype definition panel
IndentIndent48018-6	Gene studied [ID]	C	0..1
IndentIndent84414-2	Haplotype name	O
IndentIndent81250-3	Discrete genetic variant panel		0..n
IndentIndentIndent83005-9	Variant category
IndentIndentIndent81252-9	Discrete genetic variant	C	0..1
IndentIndentIndent48018-6	Gene studied [ID]	C	0..1
IndentIndentIndent51958-7	Transcript reference sequence [ID]	C	0..1
IndentIndentIndent48004-6	DNA change (c.HGVS)	C	0..1
IndentIndentIndent48005-3	Amino acid change (pHGVS)	C	0..1
IndentIndentIndent48019-4	DNA change type	O	0..1
IndentIndentIndent48006-1	Amino acid change [Type]	O	0..1
IndentIndentIndent48013-7	Genomic reference sequence [ID]	C	0..1
IndentIndentIndent81290-9	Genomic DNA change (gHGVS)	C
IndentIndentIndent69547-8	Genomic ref allele [ID]	C	0..1
IndentIndentIndent81254-5	Genomic allele start-end	C	0..1
IndentIndentIndent69551-0	Genomic alt allele [ID]	C	0..1
IndentIndentIndent84414-2	Haplotype name	O
IndentIndentIndent81255-2	dbSNP [ID]	O	0..1
IndentIndentIndent81257-8	CIGAR [ID]	O	0..1
IndentIndentIndent48001-2	Cytogenetic (chromosome) location	O	0..1
IndentIndentIndent48002-0	Genomic source class [Type]	O	0..1
IndentIndentIndent81304-8	Variant analysis method [Type]	O
IndentIndentIndent53037-8	Genetic variation clinical significance [Imp]	O	0..1
IndentIndentIndent69548-6	Genetic variant assessment	O
IndentIndentIndent81259-4	Associated phenotype	O	0..1
IndentIndentIndent53034-5	Allelic state	C	0..1
IndentIndentIndent81258-6	Sample variant allelic frequency [NFr]	O	0..1	%
IndentIndentIndent82121-5	Allelic read depth	O	0..1	{#}
IndentIndentIndent82120-7	Allelic phase	O	0..1
IndentIndentIndent82309-6	Basis for allelic phase [Type]	O

Basic Attributes

Class: MOLPATH.DELDUP
Type: Laboratory
First Released: Version 2.56
Last Updated: Version 2.65 (MIN)
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Chromozom oblast 16p13.3 delece:Nález:Časový bod:Amniová tekutina/choriový klk:Dokument:Fluorescenční in situ hybridizace (FISH)
el-GR	Greek (Greece)	Χρωμοσωμική περιοχή 16p13.3 διαγραφή:Εύρεση:Pt:Αμνιακό υγρό/ΕΝΥ:Doc:Φθορίζουσα υβριδοποίηση in situ Synonyms: Doc MOLPATH MOLPATH.DELDUP Pt Αμνιακό υγρό Αμνιακό υγρό/ΕΝΥ Βιοψία χοριακής λάχνης διαγραφή Εύρεση Περιοχή Φθορίζουσα υβριδοποίηση in situ Χρωμόσωμα Χρωμοσωμική περιοχή Χρωμοσωμική περιοχή 16p13.3
es-ES	Spanish (Spain)	Región cromosómica 16p13.3 Deleción:Hallazgo:Punto temporal:Líquido amniótico o muestra de vellosidades coriónicas:Doc:Hibridación in situ fluoresente (FISH)
es-MX	Spanish (Mexico)	Deleción de la región cromosómica 16p13.3:Hallazgo:Punto temporal:Muestra de líquido amniótico o vellosidades coriónicas:Documento:Hibridación fluorescente in situ (FISH)
fr-FR	French (France)	Chromosome région 16p13.3 délétion:Recherche:Ponctuel:Liquide amniotique/Villosités choriales:Document:FISH
it-IT	Italian (Italy)	Regione cromosomica 16p13.3 Delezione:Osservazione:Pt:Liquido amniotico/Villi coriali, prelievo:Doc:FISH 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:stwierdzenie:punkt w czasie:próbka płynu owodniowego lub kosmka kosmówki:dokument:FISH Synonyms: Delecja prążka 13.3 krótkiego ramienia chromosomu 16 fluorescencyjna hybrydyzacja in situ
zh-CN	Chinese (China)	染色体区域 16p13.3 缺失:发现:时间点:羊水/绒毛膜绒毛样本:文档型:FISH Synonyms: Fluorescent in situ hybridization;荧光原位杂交临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书分子病理学;分子病理学试验区;地区;局部发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论时刻;随机;随意;瞬间染色体二体型+染色体三体型染色体区域（染色体部位、染色体区、染色体区带、染色体部） 16p13.3 染色体缺失;染色体区带缺失;基因缺失;缺损;基因缺损;基因删除;删除;基因丢失染色体部位;染色体区;染色体区带;染色体部;染色体区域（染色体部位、染色体区、染色体区带、染色体部）绒毛膜绒毛标本;绒膜绒毛标本;绒膜绒毛样本羊水（羊膜水、胎水）或绒毛膜绒毛样本（绒毛膜绒毛标本、绒膜绒毛标本、绒膜绒毛样本、CVS）羊膜水;胎水

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CodeSystem lookup: https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=82240-3

LOINC Copyright

Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.