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Dedicated genetic testing for spinal muscular atrophy

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Dedicated genetic testing for spinal muscular atrophy

In addition to a comprehensive screening for more than 110 genetic disorders (Inheritest), we also offer screening for specific disorders, such as spinal muscular atrophy (SMA).

Why focus on SMA screening?

The purpose of SMA carrier screening is to determine if a couple is at increased risk for having a child with SMA, the leading genetic cause of infant death.1

You could be a carrier of SMA even if no one in your family has SMA and even if you already have children without SMA. Carriers of the abnormal gene have no symptoms of the disorder. As with most inherited disorders, the risk for being an SMA carrier varies by ethnic background2 (see table below).

Ethnicity SMA carrier risk in people with no family history of SMA
Caucasian 1 in 47
Asian Indian 1 in 52
Asian 1 in 59
Ashkenazi Jewish 1 in 67
Hispanic 1 in 68
African American 1 in 72

The screening test requires a blood sample or mouthwash and results are typically ready within 5 to 8 days. If a couple has not yet conceived, one partner is usually tested first. If a woman is already pregnant, a couple may opt to be tested at the same time.

If both parents are carriers of an altered SMA gene, there is a chance their child will be affected.

Learn more about how inherited disorders like SMA are passed on.

If you’ve not had a test and have questions about costs or coverage, use our estimator.

If you have already had a test performed, we can help answer questions about results.

Ask questions about genetic testing options or results, or schedule an appointment.

References

  1. Carrier Screening for Genetic Conditions. ACOG Committee Opinion No. 691, March, 2017
  2. Sugarman EA, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet 2012; 20:27-32.