P0116
Prader Willi Syndrome MS PCR
Test Details: Prader Willi syndrome (PWS) is a genetic disorder caused by a loss of function of specific genes on chromosome 15. The disease is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. This MS PCR-based assay evaluates the methylation status of the CpG island of the SNRPN gene and allows for rapid molecular diagnosis of Prader Willi Syndrome.
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Category
Molecular Genetics
Pre-test Information
Clinical details & history is mandatory.
Report Delivery
8 working days
Gender
All
Organ
Multi-Organ
Prader Willi Syndrome MS PCR
7200
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