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11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
Clinical Genetic Test
Help
offered by
Laboratory for Molecular Diagnostics
View lab's test page
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GTR Test Accession: Help GTR000280327.5
INHERITED DISEASEENDOCRINOLOGYMETABOLIC DISEASE ... View more
Last updated in GTR: 2019-09-05
View version history
Last annual review date for the lab: 2024-10-02 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Conditions (1): Help
Deficiency of steroid 11-beta-monooxygenase
Genes (1): Help
CYP11B1 (8q24.3)
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Laboratory for Molecular Diagnostics
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Physician Assistant
Test Order Code: Help
202010
Lab contact: Help
Mato Nagel, MD, Medical Director
nagel@moldiag.de
+49 3576287922
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
To order a test please send an e-mail to nagel@moldiag.de or to labor@moldiag.de. The request forms are available for download as a PDF documents by selecting the disease or gene on the website http://www.moldiag.de/en/. The forms may also be requested by sending an email to labor@moldiag.de. General price list is …
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Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    Comment: included
Confirmation of research findings
    Comment: included
Custom Deletion/Duplication Testing
    Comment: included
Custom Sequence Analysis
    Comment: included
Data Storage and Backup
    Comment: included
Result interpretation
    Comment: included
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Test strategy
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: 2
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
3130XL Genetic Analyzer Applied Biosystem
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Screening
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Recommended fields not provided:
Clinical validity, Target population, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
Internal quality control
Test Confirmation: Help
Internal quality control
Test Comments: Help
All known and new missense, nonsense and splice mutations can be detected.
Availability: Help
Tests performed
Entire test performed in-house

Test performance comments
In-house test
Analytical Validity: Help
The sensitivity of DNA sequencing is over 99% for the detection of nucleotide base changes, small deletions and insertions in the regions analyzed.
View citations (1)
  • Mattocks CJ, Morris MA, Matthijs G, Swinnen E, Corveleyn A, Dequeker E, Müller CR, Pratt V, Wallace A, . A standardized framework for the validation and verification of clinical molecular genetic tests. Eur J Hum Genet. 2010;18(12):1276-88. doi:10.1038/ejhg.2010.101. Epub 2010 Jul 28. PMID: 20664632.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No

Method used for proficiency testing: Help
Intra-Laboratory

Description of internal test validation method: Help
Internal Quality Control
Recommended fields not provided:
Assay limitations, Citations to support internal test validation method, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.