Congenital Hypotonia Evaluation

New York
Approved


Genes

DMPK, SMN1, SMN2

Conditions

  • Myotonic Dystrophy
  • Prader-Willi syndrome (PWS)
  • Spinal Muscular Atrophy

Clinical Utility

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

Lab Method

  • PCR Fragment Analysis
  • Deletion/Duplication Analysis
  • Dosage Analysis

Test Code

TG78

CPT Codes*

81234x1, 81329x1

ABN Required

No

Turnaround Time**

2-3 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs | Extracted DNA

*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.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.