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Spinal Muscular Atrophy (SMA)

The First Step in Family Planning

Spinal Muscular Atrophy (SMA) is an inherited neuromuscular disorder characterized by progressive muscle weakness and atrophy. This autosomal recessive condition is primarily caused by homozygous deletions of the SMN1 gene, while the SMN2 gene influences disease severity.

Who Is It For?

  • All couples planning a pregnancy and all pregnant women.
  • Individuals presenting with clinical signs and symptoms associated with SMA.
  • SMA Carrier Screening identifies carrier status in healthy individuals, helping to assess the risk of having a child affected by SMA.

Method
According to the American College of Medical Genetics and Genomics (ACMG) guidelines, both MLPA and NGS methods should be used together for SMA screening and diagnosis.

  • MLPA: The gold-standard method for detecting SMN1 deletions and determining SMN2 copy number.
  • NGS: Enables the sensitive detection of rare variants and copy number variations (CNVs).

Important Note: The MLPA analysis performed at our center also evaluates and reports variants associated with silent carrier status.

Feature

Details

Method

MLPA / NGS

Coverage

SMN1 and SMN2 genes

Sample Requirement

Blood (EDTA Tube)

Turnaround Time (TAT)

MLPA: 10-14 days 
NGS: 4-5 weeks


*For a detailed sample collection, please contact our team.

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