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Differences in Sex Development (DSD)

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Molecular and cytogenomic testing for differences in sex development (DSD).

EQA INFORMATION

EQA Code
GDSD
Submission
Clinical Report
Techniques
Any methodology
Eligibility
All laboratories worldwide.
Language
English, French, German, Italian, Polish, Portuguese, Spanish
EQA Accreditation
EQA accredited to ISO 17043:2010
EQA open

07 April 2025

Testing period
8 weeks

OTHER INFORMATION

Suitable for both molecular and/or cytogenomic testing.

What are participants required to do?
  • Enrolled participants will receive details by email when an EQA is open for assessment and/or samples have been dispatched.  
  • Participants are expected to access the instructions and information for the cases online and to analyse them according to their laboratory/centre protocols. 
  • Participants must submit their anonymised results by the deadline using their standard laboratory report or a proforma provided by GenQA.  The submitted results are independently assessed for the clinical interpretation of the results and clerical accuracy (including report layout and content). 

What can I expect as a participant?
Every participant will receive:
  • An Individual Laboratory/Centre Report (ILR/ICR) with educational advice for each distribution of this EQA.
  • The Summary report for each distribution of this EQA which contains information regarding general findings, a summary of methodologies used, common errors, number of participants and benchmarking. 
  • Access to a live Performance Certificate summarising your performance status for all EQAs in which you are enrolled.

Please note: EQA details may be subject to change prior to EQA distribution.  

PRODUCTS

Sample type: Case scenario
Testing/analysis: Online case scenario requiring interpretation of molecular and cytogenetic results associated with DSD. There will be no optional DNA sample in the 2025 DSD EQA.
Conditions/Gene target(s):
  • Androgen Insensitivity syndrome (AIS)
  • Congenital Adrenal Hyperplasia (CAH) / 21-hydroxylase deficiency (21-OH)
  • Congenital Adrenal Hypoplasia 
  • 5-alpha-reductase deficiency
  • Other disorders associated with a DSD panel, including cytogenomic abnormalities.  
  • AR, CYP21A2, NR0B1, SRD5A2, SRY

We aim to include a variety of disorders / scenarios / tests within each EQA.  For this EQA please select the required options at enrolment.  In addition, you may opt out of any case if it is outside of your routine laboratory scope, by following the instructions in the EQA Distribution letter.

Number of cases: Two

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Differences in Sex Development (DSD)

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