Disorders of Sexual Development (Pilot)
Pilot - Not Accredited
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
From 1st January 2018, Cytogenomics External Quality Assessment Service (CEQAS) and UK National External Quality Assessment Service (UK NEQAS) for Molecular Genetics merged to become Genomics Quality Assessment (GenQA). Please click here for an overview of GenQA