Prader-Willi syndrome (PWS)

PWS is characterized by central hypotonia and feeding difficulties during infancy followed by excessive eating, rapid weight gain, and central obesity in early childhood. Children with PWS exhibit characteristic facial features including bitemporal narrowing, almond-shaped palpebral fissures, and a down-turned mouth. Additional diagnostic characteristics of PWS include global developmental delay, mild to moderate intellectual disability, distinctive behaviors, short stature, hypopigmentation relative to other family members, small hands and feet, and hypogonadism manifesting as genital hypoplasia, incomplete/delayed puberty and, in the majority of cases, infertility. The neurobehavioral phenotype in individuals with PWS includes hyperphagia, temper tantrums, aggression, specific repetitive and ritualistic behavior, stealing and lying, skin picking, mood and sleep disturbances. Consensus diagnostic criteria were first established in 1993 and revised in 2001 to aid in the recognition of the disorder.

Tests Available

Forms and Documents

Test Details

DMPK, SMN1, SMN2
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with treatment/management decisions
  • Recurrence risk assessment

Ordering

TG78
2-3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81234x1; 81329x1; 81331x1
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Forms and Documents

Test Details

  • Confirmation of clinical diagnosis
  • Targeted testing for a known familial deletion, UPD or imprinting error
  • Prenatal diagnosis by targeted array CGH for deletions or UPD only (methylation analysis not available for prenatal).

Ordering

TJ27
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81331x1
Yes
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.