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)
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
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:
- Bloom syndrome
- Canavan disease
- Dihydrolipoamide dehydrogenase deficiency
- Familial dysautonomia
- Familial hyperinsulinism
- Fanconi anemia
- Gaucher disease
- Glycogen storage disease
- Joubert syndrome 2
- Maple syrup urine disease
- Mucolipidosis type IV
- Nemaline myopathy
- Niemann-Pick type A
- Tay-Sachs disease
- Usher syndrome
- Walker-Warburg syndrome
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.
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