Gen QA

MEMBER LOGIN

MENU menu

Close close menu

Genomic multidisciplinary team (MDT) working for rare disease (pilot)

BACK TO EQA DIRECTORY

Multi-stage scenario requiring interpretation of test results pre and post MDT and submission of a laboratory report. This EQA is aimed at teams interpreting genomic data for rare and inherited diseases.

EQA INFORMATION

EQA Code
MMDTR
Submission
Clinical Report
Techniques
N/A
Eligibility

Open to all genetics centres/laboratories. EQA participation will be expected from the whole genomic multidisciplinary team. Participants may prefer to create a new user account for this team which is separate from their genomics laboratory or clinical genetics EQA accounts (please contact GenQA for further information) as it is the MDT process which will be assessed, not solely the laboratory’s activity and not solely the clinician’s activity.

Language
English only
EQA Accreditation
Pilot
EQA open

03 November 2025

Testing period
12 weeks

OTHER INFORMATION

 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/samples online and to analyse them according to their laboratory/centre protocols. 
  • Participants must submit their answers online by the deadline.  The submitted results are independently assessed for appropriate variant classification, relevant discussions at MDT, and an appropriate outcome measured by the laboratory report. 

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 summarizing their performance status for all EQAs in which they are enrolled.

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

PRODUCTS

Sample type: Case scenario
Testing/analysis:

Educational multi-stage case scenarios based on a real clinical case requiring interpretation of phenotype information and test results pre and post MDT. Pre and post MDT documentation are submitted along with a laboratory report. 

Conditions/Gene target(s): All disorders.
One case for a prenatal scenario.
One case for a postnatal scenario. 
Number of cases: Two

LOGIN TO PURCHASE

 

ASK A QUESTION

Genomic multidisciplinary team (MDT) working for rare disease (pilot)

Enter your details here: