Testing Service

SMA Carrier Testing

What is SMA?

Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by degeneration of spinal cord motor neurons that leads to atrophy of skeletal muscle and overall weakness.

At disease -onset, the muscles of a SMA patient would develop symmetry, gradual degeneration and atrophic manifestation of weakness with the patient’s ability to control voluntary muscle movement, such as walking, crawling, swallowing, breathing, and controlling head/neck muscles, becoming increasingly affected or even leading death.

SMA is the biggest genetic killer of babies under two years of age. 

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What causes SMA?

SMA is caused by abnormal SMN1 gene on chromosome 5. About 95% of SMA patients due to deletion of SMN1 gene, and the small number of patients due to some minor mutations leading to no functioning gene.1

The majority of normal persons have more than 2 SMN1 genes with only one SMN1 gene for carriers and none for persons with SMA.

On average, one carrier is presented in every 40–50 people. If both parents are carriers, they are healthy but carrying a defective SMN1 gene. Their every child has a 1/4 (25%) chance of being affected with SMA.

  • Prevalence: 1/10,000-1/25,000
  • Carrier rate: 1/40-1/502

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Who is recommended for testing?

  • Women with a family history of Spinal Muscular Atrophy
  • Women concerned about being carriers and risk to pregnancy

 

 

Why choose GGA?

  • THE 1st to successfully serve prenatal SMA genetic testing in Asia since 2005
  • OVER 14 YEARS EXPERIENCE in SMA genetic testing
  • SMA CLINICAL RESEARCH published3 
  • HIGH ACCURACY >99% sensitivity for NIPT and multi-platform confirmation for SMA testing
  • SIMPLE only need blood draw for the testing
  • CAP-ACCREDITED (the highest standard of medical laboratory world wide) lab
  • U.S. LICENSENCED genetic counselor

 

 

 

Reference:

  1. ACOG Committee Opinion Number 691, March 2017
  2. http://www.smafoundation.org/
  3. PLoS One 6.2 (2011): e17067
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