New!
Product Code: 04-NBS-27
From £945.00
Deadline to order: 01/03/2027
Newborn Screening
This EQA is intended for laboratories performing newborn screening testing.
CNV, DNA extraction, MLPA, NGS, Panel testing, PCR based, Sanger sequencing, Whole exome sequencing, Whole genome analysis (CNV), Whole genome sequencing
English, French, German, Italian, Spanish
["Artificial blood spot", "DNA (in TE Buffer)"]
No
Oct-27
October - November 2027
March 2028
You can complete purchase on our secure partner site.
The newborn screening pilot EQA scheme is designed to assess a laboratory’s ability to perform genomic testing in the context of newborn screening.
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.
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).
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