DNA (in TE Buffer).
Assessment of genotyping, and biological and clinical interpretation.
For each case, participants are expected to return a clinical report which includes a complete interpretation of the results.
No restrictions on number of participants.
Open to laboratories from ALL countries.
Three mock clinical cases with matching samples.
Reports accepted in English, German and French ONLY.
Suitable for sequence based analysis (e.g. NGS / Sanger Sequencing) and copy number analysis (e.g. MLPA, NGS based CNV analysis).
Also known as Maturity onset diabetes of the young (MODY).