Genomic Unity® SMN1/2 Gene Analysis

Genomic Unity® SMN1/2 Gene Analysis is an appropriate test for the genetic cause of spinal muscular atrophy.

Order this test when the patient presents with symptoms of spinal muscular atrophy, and you'd like the option to reflex up to Genomic Unity® Whole Genome Analysis.

  • Sequencing analysis of the SMN1 gene
  • Del/dup analysis of the SMN1 gene
  • Determination of SMN copy number

Optionally includes:

  • Reflex to Genomic Unity® Whole Genome Analysis or Genomic Unity® Exome Analysis

SMN1, SMN2

SNVs and Indels up to 50bp
99.7% sensitivity
99.6% positive predictive value

Note that the SMN2 gene is only analyzed for determination of copy number for assessment of severity of spinal muscular atrophy (SMA).

Structural variants:
96% clinical sensitivity

81329, 81336, 81479

The CPT codes provided 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.

Blood - 5ml
Saliva - contact us for a kit
gDNA - 5μg

Turn around time is 6-8 weeks from sample receipt.