Prader Willi syndrome is characterized by severe hypotonia, poor feeding
in early infancy followed later in infancy by excessive
eating that, can lead to obesity if left unchecked. Children
with PWS show developmental delay, mild-to-moderate mental
retardation with multiple learning disabilities. Hypogonadism
is present in females and males. Short stature
and small hands and feet
are also common.
Prader-Willi syndrome is due to a chromosome deletion
involving loss of material from chromosome region 15q11-q13.
The loss is consistently from the father's contribution
of chromosome region 15q11-q13. A child with P'wS can
have two copies of chromosome region 15q11-13 but both
will be from the mother. The opposite condition occurs
in patients with Angelman syndrome, with the deletion
occurring on the maternal region.
There is currently no specific treatment or cure for
PWS. Parents are advised to limit consumption of high-calorie
foods, and to use techniques such as special education,
speech therapy, and physical therapy to maximize the
child's potential. Severe psychiatric illness is common
in PWS adults. FISH studies are also available to assist
in the diagnosis of this disorder. Please refer to the
FISH for Chromosome Anomalies section.
Methodology: methylation analysis
Purpose: Confirmation of Clinical Diagnosis
ICD-10 Code Q87.1
Test Requisition: Molecular Requisition
CPT Code: 81331 Cost: $438.00
Turn-around-time: 21 days