Spinal muscular atrophy
In addition to a comprehensive screening test for more than 110 genetic disorders (Inheritest), we also offer screening for specific disorders, such as spinal muscular atrophy (SMA), the most common inherited cause of early childhood mortality.1 With more than 600,000 tested samples, Integrated Genetics has been a leader in the field of SMA research and testing.
Because of the severity and relatively high carrier frequency, there has been increasing interest in carrier screening for SMA in the general prenatal population. “Screening for spinal muscular atrophy should be offered to all women who are considering pregnancy or are currently pregnant.” – ACOG Committee Opinion No. 691, March 2017.
As with most inherited disorders, the risk for being an SMA carrier varies by ethnic background.2
|Ethnicity||SMA carrier risk|
Mixed ethnicities for counseling purposes, consider using the ethnic background with the most conservative risk.
Determine if the baby is affected
For pregnancies at risk, we also offer prenatal testing to determine whether the baby has the parental mutations, saving patients time and additional testing.
Sample requirement and turnaround time
The screening test requires a blood sample and results are typically ready within five to eight 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.
Other testing options
In addition to carrier screening, we also offer: serum screening and noninvasive prenatal testing (NIPT, sometimes called NIPS or cell-free DNA), including the pioneering whole-genome NIPT; diagnostic testing that can be used on prenatal and products of conception (POC) samples, as well as pediatric, cord blood or adult samples; and hereditary cancer screening.
- Carrier Screening for Genetic Conditions. ACOG Committee Opinion No. 691, March 2017
- 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.
- Dombrowski C et al, Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Hum Mol Genet. 2002 11(4):371-8