Classic view of this page
qGenEx Sex development disorders
Clinical Genetic Test
Help
offered by
Quantitative Genomic Medicine Laboratories, SL
GTR Test Accession: Help GTR000552858.2
INHERITED DISEASEDYSMORPHOLOGYENDOCRINOLOGY ... View more
Last updated in GTR: 2018-09-12
View version history
Last annual review date for the lab: 2024-10-31 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (45): Help
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency; 3 beta-Hydroxysteroid dehydrogenase deficiency; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency more...
Genes (48): Help
AKR1C2 (10p15.1); AMH (19p13.3); AMHR2 (12q13.13); AR (Xq12); ARX (Xp21.3) more...
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
individulas suspicious of a sex development disorder
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Quantitative Genomic Medicine Laboratories, SL
View lab's website
Specimen Source: Help
  • Isolated DNA
  • Peripheral (whole) blood
  • Saliva
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, How to Order, Lab contact for this test, Contact policy, Test strategy, Test development
Conditions Help
Total conditions: 45
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 48
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
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
individulas suspicious of a sex development disorder
Recommended fields not provided:
Clinical validity, Clinical utility, 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
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
sensitivity>90% sensibility >90%
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

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.