Chromosome region 7q11.23 deletion duplication:Find:Pt:Bld/Tiss:Doc:Molgen

Preferred Label : Chromosome region 7q11.23 deletion duplication:Find:Pt:Bld/Tiss:Doc:Molgen;

LOINC status : ACTIVE;

LOINC display name : 7q11.23 del and dup mutation analysis Molgen Doc (Bld/Tiss);

LOINC long common name : Chromosome region 7q11.23 deletion and duplication mutation analysis in Blood or Tissue by Molecular genetics method;

LOINC short name : Chr 7q11.23 Del Dup Bld/T;

LOINC description : Deletion/duplication analysis of the 7q11.23 chromosomal region by various methods, including PCR and MLPA. This test is performed for the diagnosis of Williams-Beuren Syndrome (WBS). The WBS critical region (WBSCR) can also be duplicated in patients with 7q11.23 duplication syndrome.;

Details

Origin ID

81852-6;

UMLS CUI

C4265030;

Has component
- Chromosome [LOINC component]
- Chromosome region 7q11.23 [LOINC component]
- Chromosome region 7q11.23 deletion [LOINC component]
- Chromosome region 7q11.23 deletion+duplication [LOINC component]
- Cytogenetic location [LOINC component]
- Region [LOINC component]
Has method
- Molecular genetics [LOINC method]
Has property
- Finding [LOINC Property]
Has scale
- Doc [LOINC scale]
Has system
- Blood [LOINC System]
- Blood or Tissue [LOINC System]
- Tissue and Smears [LOINC System]
Has time aspect
- Point in time (spot) [LOINC time aspect]
Semantic type(s)
- Clinical Attribute [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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