SMN1 testing (For Spinal Muscular Atrophy)

By: | Tags: | Comments: 0 | October 29th, 2019

Currently approved only for NJ

SMN1 is a multiplex PCR assay used to amplify exon 7 of the SMN1 gene along with an endogenous control gene followed by peak resolution by capillary electrophoresis.

SMA is an autosomal recessive neuromuscular disease caused by loss of SMN1 gene function.

Test offered for prenatal or preconception carrier screening for SMA in the general population, carrier screening for the reproductive partner of a known SMA carrier, and carrier screening for parents of a child with a deletion of the SMN1 gene or other family history of SMA.

Lincoln Labs SMN1 test offers:

  • Turnaround time of 7-10 days
  • Broad coverage by most private and public insurance.

Specimen Requirements

Transport 5 mL whole (Min: 2 mL whole blood)

Storage/Transport Temperature – Room temperature. If transport time will exceed 48 hours: Refrigerated.

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