Prader-Willi syndrome DNA (PWS)
Order Name
PRADR DNA
Test Number: 5591575
Revision Date 10/01/2022
Test Number: 5591575
Revision Date 10/01/2022
| Test Name | Methodology | LOINC Code |
|---|---|---|
|
Prader-Willi syndrome DNA (PWS)
|
DNA methylation analysis |
| SPECIMEN REQUIREMENTS | ||||
|---|---|---|---|---|
| Specimen | Specimen Volume (min) | Specimen Type | Specimen Container | Transport Environment |
| Preferred | 5mL (3mL) | Whole Blood | EDTA (Lavender Top) | Room Temperature |
| GENERAL INFORMATION | |
|---|---|
| Testing Schedule | Mon-Fri |
| Expected TAT | 1-2 Weeks |
| Clinical Use | Prader-Willi syndrome (PWS) is characterized by neonatal hypotonia and failure to thrive, early childhood-onset hyperphagia with resulting obesity, short stature, small hands and feet, hypogonadotropic hypogonadism and mental retardation. The majority of patients (70%) have interstitial deletions of the paternal chromosome 15 (q11.2-q13). Approximately 26% have maternal uniparental disomy (UPD), 2% have chromosome 15 translocations, and 2% have mutations of the imprint control region. |
| Notes | Prader-Willi syndrome (PWS) DNA methylation analysis can be included in the Hypotonia Panel with myotonic dystrophy (DM) and Spinal muscular atrophy (SMA) analysis to expedite diagnosis. Please submit Pre-Authorization form when the patient has United Healthcare insurance. |
| CPT Code(s) | (Pre-Authorization Required) 81331 |
| Lab Section | Reference Lab |