Angelman / Prader-Willi Syndrome - uniparental disomy - mechanism identification - amniotic fluid

Biomnis code

DUPLA

Synonyms

• OMIM code : #105830/ #176270

Preanalytical

• 5 mL
• Amniotic fluid
• Ambient temperature

Further information

• 5 ml of whole blood on EDTA from each parent (quotation on request) is required to perform this test
• ALWAYS attach the medical prescription, the clinical patient's history and the consent form signed by both the patient and the prescribing clinical

Methodology

Microsatellites. Fluorescent sequence analysis (PCR)

Turn around Time

1 week