Disorders of Sex Development (DSD)
Disorders of sexual development including: Androgen Insensitivity syndrome (AIS) Congenital Adrenal Hyperplasia (CAH) SHOX deficiency disorders CYP21A2
PURPOSE OF PROGRAMME:
Interpretation of disorders of sexual development: online case scenario with molecular and cytogenomic test results and/or DNA for analysis and interpretation of molecular studies.
MATERIAL PROVIDED: Case Scenario
DISTRIBUTIONS PER YEAR: 1
SAMPLES PER DISTRIBUTION: 2
FREQUENCY OF DISTRIBUTION: 1
PROGRAMME OF ANALYSIS:
Case scenario requiring interpretation of molecular and cytogenetic results associated with DSD, and/or DNA sample requiring testing.
Details of the performance criteria for this programme can be obtained from UK NEQAS Genomics (GenQA) directly.
Telephone: +44 (0) 131 2426898
GenQA (Genomics Quality Assessment) provides external quality assessment (EQA) / proficiency testing (PT) to the genomics community worldwide. GenQA EQAs cover the entire clinical genomics service from patient counselling, sample preparation, testing processes, results interpretation and reporting. Laboratories and individual clinicians have access to more than 100 unique EQAs available for a range of rare and inherited disorders and acquired diseases. Please click here for an overview of GenQA