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Congenital Adrenal Hyperplasia due to 21-Hydroxylase deficiency
Clinical Genetic Test
Help
offered by
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
GTR Test Accession: Help GTR000500589.6
INHERITED DISEASEENDOCRINOLOGYMETABOLIC DISEASE ... View more
Last updated in GTR: 2020-08-10
View version history
Last annual review date for the lab: 2024-07-31 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation
Conditions (1): Help
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Genes (1): Help
CYP21A2 (6p21.33)
Methods (3): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Not provided
Clinical validity: Help
90-95% of CAH cases are caused by 21-Hydroxylase deficiency.
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
View lab's website
Test short name: Help
CAH
Specimen Source: Help
  • Buccal swab
  • Peripheral (whole) blood
  • Saliva
Who can order: Help
  • Licensed Physician
Test Order Code: Help
1016 for index cases, 1017 for mutation confirmation
Lab contact: Help
Marcela Lagos, MD, Lab Director
mlagos@med.puc.cl
+56 223548515
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
How to Order, Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 3
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Targeted variant analysis
PCR with allele specific hybridization
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Clinical validity: Help
90-95% of CAH cases are caused by 21-Hydroxylase deficiency.
View citations (1)
  • Gonçalves J, Friães A, Moura L. Congenital adrenal hyperplasia: focus on the molecular basis of 21-hydroxylase deficiency. Expert Rev Mol Med. 2007;9(11):1-23. doi:10.1017/S1462399407000300. Epub 2007 Apr 30. PMID: 17466088.
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Gonçalves J, Friães A, Moura L. Congenital adrenal hyperplasia: focus on the molecular basis of 21-hydroxylase deficiency. Expert Rev Mol Med. 2007;9(11):1-23. doi:10.1017/S1462399407000300. Epub 2007 Apr 30. PMID: 17466088.

Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
ACMG-AMP guidelines for the interpretation of sequence variants, 2015 (PMID: 25741868).

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Decline to answer.
Recommended fields not provided:
Target population, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sixty clinical samples with clinical and biochemical diagnosis of CAH due to 21-Hydroxylase deficiency and five control samples were tested. The genotype was correctly genotyped in all control samples, and variants were identified in 118 out of 120 alleles (sensitivity >98%).
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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