Focused screening for specific disorders
While we offer a more comprehensive test—Inheritest®, that can screen for more than 110 clinically significant genetic disorders—some people choose to investigate their carrier status for a specific disorder instead of pursuing a wider screen.
To accommodate these specific requests, Integrated Genetics offers single-gene screening in addition to the expanded carrier screening panels.
Most common single-gene screens
Cystic fibrosis (CF) is a genetic disorder that can lead to life-threatening lung infections, and it can occur in any ethnic background. Determine if you’re at increased risk for having a child with CF.
Spinal muscular atrophy (SMA) is a hereditary disorder that destroys nerves, and the leading genetic cause of infant death.1 You could be a carrier even if no one in your family has SMA.
Fragile X syndrome is the most common cause of inherited intellectual disability, affecting approximately 1 in 4,000 males and 1 in 8,000 females.2 In addition to carrier screening, we offer both prenatal and pediatric diagnostic testing.
Other single-gene screens:
Dihydrolipoamide dehydrogenase deficiency
Glycogen storage disease
Joubert syndrome 2
Maple syrup urine disease
Mucolipidosis type IV
Niemann-Pick type A
1. ACOG Committee Opinion No. 691, March, 2017
2. Sherman, S, et al. Fragile X syndrome: Diagnostic and carrier testing. ACMG Practice Guideline Genet Med 2005; 7(8):584–587