Familial SHOX gene related disorders
SHOX testing for familial SHOX related disorders (Germline DNA).
Overview
The scheme is designed to assess the entire diagnostic pipeline of a laboratory, including sample receipt and processing, analytical processing (genotyping), and reporting (biological and clinical interpretation of the test result) in the context of a clinical referral, as well as reporting clarity, content and clerical accuracy.
At a glance
Product Code:
01-SHOX-27
Target/Genes:
Variants in the SHOX gene.
Technology:
CNV, MLPA, NGS, PCR based, Sanger sequencing
Sample Type:
DNA (in TE Buffer)
Submit Results In:
English, French, German, Italian, Spanish
Accredited:
Yes
Key Dates
30/11/2026
Jan-27
January - March 2027 (for exact dates, please see scheme instructions)
August 2027
Sample Details
Three mock clinical cases, 2 with matching samples and one virtual case will be provided.
Approximately 2.0µg DNA per sample is provided. Complete information will be available in scheme instructions.
EQA Results
Participants will receive an individual report including educational advice and a scheme report which includes additional information from the cohort of participants including geographical spread, methodologies employed, common errors, learning points and scheme statistics allowing participants to benchmark their results.
Each laboratory will also receive a single certificate listing all EQAs participated in with performance result for each year.
Participation Information
Participants are expected to test samples according to their routine strategy, to return a clinical report and to complete the data collection form.
No restrictions on number of participants. Open to laboratories from ALL countries (note: some restrictions may apply due to sanctions, delivery network exceptions, restrictions on importation etc).
Send your enquiry by submitting the form
Closes in 21 days
From £467.00
Buying is completed on the EMQN portal and needs a free EMQN account, which takes a few minutes to set up.
- ISO 17043 accredited scheme
- Submit results in 5 languages
Questions about this scheme?
Contact our team
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