94197-1LOINC 2.82
CYP21A2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
CYP21A2 Del+Dup + Full Mut Anl Bld/T
Definition
- Test includes full sequence analysis (e.g. by Sanger and/or next-generation sequencing) and deletion/duplication analysis (e.g. by multiplex ligation-dependent probe amplification) to evaluate for mutations and large deletions/duplications in the CYP21A2 gene. Testing is performed for carrier screening and diagnosis of 21-hydroxylase deficient congenital adrenal hyperplasia (CAH).
Component
- CYP21A2 gene deletion+duplication & full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH
Property
- Find
Scale
- Doc
Method
- Molgen
Related names
- 21 Hydroxylase Deficiency; Amplification; Blood; CA21H; CAH1; Congenital adrenal hyperplasia; CPS1; CYP21; CYP21B; cytochrome P450, family 21, subfamily A, polypeptide 2; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; Mut; Mutations; P450c21B; PCR; Point in time; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- 21 Hydroxylase Deficiency
- Amplification
- Blood
- CA21H
- CAH1
- Congenital adrenal hyperplasia
- CPS1
- CYP21
- CYP21A2 gene deletion+duplication & full mutation analysis
- CYP21B
- cytochrome P450, family 21, subfamily A, polypeptide 2
- Del
- Del+Dup
- Del+Dup + Full Mut Anl
- Deletions
- Document
- Dp
- Finding
- Findings
- full gene sequencing
- Full Mut Anl
- Genetics
- Heredity
- Heritable
- Inherited
- Molecular genetics
- Molecular pathology
- MOLPATH
- Mut
- Mutations
- P450c21B
- PCR
- Point in time
- Random
- sequencing of entire coding region
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue