NEWBORN SCREENING
Newborn Screening
Overview
The newborn screening pilot EQA scheme is designed to assess a laboratory’s ability to perform genomic testing in the context of newborn screening.
At a glance
Product Code:
04-NBS-27
Target/Genes:
This EQA is intended for laboratories performing newborn screening testing.
Technology:
CNV, DNA extraction, MLPA, NGS, Panel testing, PCR based, Sanger sequencing, Whole exome sequencing, Whole genome analysis (CNV), Whole genome sequencing
Sample Type:
["Artificial blood spot", "DNA (in TE Buffer)"]
Submit Results In:
English, French, German, Italian, Spanish
Accredited:
No
Key Dates
01/03/2027
Oct-27
October - November 2027
March 2028
Sample Details
Artificial dried blood spot (DBS) materials and genomic DNA (gDNA) samples will be provided with mock clinical case information for conditions including spinal muscular atrophy (SMA; SMN1/SMN2), cystic fibrosis (CFTR), phenylketonuria (PKU; PAH) as well as optional sample for panel testing (e.g. glucose-6-phosphate dehydrogenase (G6PD) deficiency and medium-chain acyl-CoA dehydrogenase deficiency (MCADD)). A minimum of two mock clinical cases with matching samples will be provided. One of them will be provided as DBS material.
Participation Information
Participants are expected to test samples according to their routine strategy and to return a clinical report.
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 112 days
From £945.00
Buying is completed on the EMQN portal and needs a free EMQN account, which takes a few minutes to set up.
- Submit results in 5 languages
Questions about this scheme?
Contact our team
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