Eurofins Biomnis code

DUP

Specialty

Genetics

Clinical significance

Uniparental disomy (UPD) is the presence of a diploid subject of two chromosomes (subjected to fingerprinting) inherited from the same parent. The correlary of this phenomenon is the appearance of diseases such as Prader-Willi syndrome or Angelman syndrome for the region located on the long arms of chromosome 15(15q11-13).

Preanalytics

• 5 mL :
• Whole blood EDTA, avoid tubes containing beads.
•   Ambient temperature

• A tube specifically for this analysis : No

Further information

According to regulation, each request must ALWAYS be accompanied by a consent form signed by the patient and the prescribing pathologist
5 ml of whole blood on EDTA from each parent (quotation on request) is required to perform this test
Enclose the specific B12-INTGB request form: Molecular Genetics

Documents to download

• Specific Test Request Form (B12-INTGB)

Methodology

Microsatellites (14, 15, 7, 11, 16, 20). Fluorescent sequence analysis (PCR)

Turnaround time

1 week