Spinal muscular atrophy (SMA), carrier testing

Alphabetical Test listing

Spinal muscular atrophy (SMA), carrier testing-13550

  
Spinal muscular atrophy (SMA), carrier testing
  
13550
  
LAB13550
  
SMA
  
Dubowitz disease (SMA type II)
Kugelberg-Welander disease (SMA type III)
Prenatal SMA
SMA
Werdnig-Hoffman disease (SMA type I)
  
  • Carrier testing for individuals in the general population, or individuals with a family history of SMA, or couples who are planning a pregnancy or who are already pregnant.
  • Prenatal diagnosis for at-risk pregnancies, when both parents are carriers or when severe joint contractures are found on fetal ultrasound.
  
ACD-A whole blood
  

Yellow ACD-A

 

 

  
10 mL
  

In some circumstances, specimens from other family members may be required.

  

Yellow ACD-A

  
EDTA whole blood
  
  

Lavender (EDTA), 10mL

  

Ambient (preferred) - 2 days

  
  • Frozen specimen
  • Hemolysis
  • Quantity not sufficient for analysis
  • Improper container
  • Blood specimens more than four days post draw
  • Yellow-top (ACD-B) tubes are not acceptable
  
Esoterix Genetic Laboratories (516) via LabCorp (450010): R-LC
  
Mo - Sa
  
9 - 10 days
  

After DNA is isolated, exon 7 of the SMN1 gene and internal standard reference genes are amplified by real-time polymerase chain reaction(PCR). A mathematical algorithm calculates SMN1 copy numbers of 0, 1, 2 or 3 with statistical confidence. To rule out the presence of sequence variants that could interfere with analysis and interpretation, sequence analysis of primer and probe binding sites is performed for samples with one copy of SMN1. Reflex testing to SMN2 copy number analysis is performed for specimens with 0 copies of SMN1.

  

An interpretive report will be provided

  
81329
  
Yes
  
  
Result UNLOINC
  
04/11/2019
  
07/24/2020
  
08/04/2020