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Test for 3-beta-Hydroxysteroid Dehydrogenase-Deficient Congenital Adrenal Hyperplasia
Clinical Genetic Test
Help
offered by
Hehr Laboratory
GTR Test Accession: Help GTR000320609.1
INHERITED DISEASEENDOCRINOLOGYMETABOLIC DISEASE ... View more
Registered in GTR: 2013-01-21
View version history
Last annual review date for the lab: 2021-11-15 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment
Conditions (1): Help
3 beta-Hydroxysteroid dehydrogenase deficiency
Genes (1): Help
HSD3B2 (1p12)
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Target population: Help
Salt wasting forms of congenital adrenal hyperplasia
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Hehr Laboratory
View lab's website
Test short name: Help
HSD3B2
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Cell culture
  • Cell-free DNA
  • Chorionic villi
  • Cord blood
  • Dried blood spot (DBS) card
  • Fetal blood
  • Fibroblasts
  • Isolated DNA
  • Peripheral (whole) blood
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Lab contact: Help
Ute Hehr, MD, Medical Director
[email protected]
+49 9415861330
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.
How to Order: Help
Please send EDTA blood or genomic DNA at room temperature with suitable mail or transportation service, preferentially at the beginning of the week. Please specify request, include contact address and phone number of refering physician, confirmation of informed consent and payment, and for shipments from outside the European Union custom …
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Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Result interpretation
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
Yes
Test strategy: Help
For index cases sequence analysis entire coding region and flanking splice sites For carrier or prenatal testing please include mutation report, indicate relationship within family for index case and probands to be tested Each identified mutation will be confirmed by independant PCR and sequencing or RFLP of new DNA preparation … View more
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Test Order Code
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: 1
Method Category Help
Test method Help
Instrument
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3500xL Genetic Analyzer
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment
Target population: Help
Salt wasting forms of congenital adrenal hyperplasia
View citations (1)
  • Congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase/Delta(5)-Delta(4) isomerase deficiency. Simard J, et al. Semin Reprod Med. 2002;20(3):255-76. doi:10.1055/s-2002-35373. PMID: 12428206.
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Confirmation: Help
independent confirmation with new PCR product from new DNA preparation or diluation of the provided DNA sample, preferentially by RFLP or sequencing in both directions
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
sensitivity and specificity sequencing > 95%
Assay limitations: Help
sequence analysis will not detect heterozygous exon deletions or duplications
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory

PT Provider: Help
testing of samples with mutations identified in other lab
Recommended fields not provided:
Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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