Uniparental disomy - UPD - whole blood
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DUP
Clinic 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).
Prenalytics
- 5 mL
- EDTA whole blood
- Ambient temperature
Further information
- 5 ml of whole blood on EDTA from each parent (quotation on request) is required to perform this test
- According to regulation, each request must ALWAYS be accompanied by a consent form signed by the patient and the prescribing pathologist
- Enclose the specific B12-INTGB request form: Molecular Genetics
Documents to download
Methodology
Microsatellites (14, 15, 7, 11, 16, 20). Fluorescent sequence analysis (PCR)
Turnaround time
1 week
Pathologist(s) in charge
Biomnis Lyon
Specialty
Genetics
Contact(s)
Dr Laure RAYMOND
E-mail(s)
Phone(s)
+334 72 80 25 77