qGenEx Sex development disorders
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000552858.2
INHERITED DISEASEDYSMORPHOLOGYENDOCRINOLOGY ... View more
Last updated in GTR: 2018-09-12
Last annual review date for the lab: 2020-01-23 Past due LinkOut
At a Glance
Diagnosis
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; ...
AKR1C2 (10p15.1), AMH (19p13.3), AMHR2 (12q13.13), AR (Xq12), ARX (Xp21.3), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
individulas suspicious of a sex development disorder
Not provided
Not provided
Ordering Information
Offered by: Help
Quantitative Genomic Medicine Laboratories, SL
View lab's website
Specimen Source: Help
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:
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:
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:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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