Single-gene screening

Single-gene screening

All single-gene

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.​

CF test details

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.​

SMA test details

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.​

Fragile X test details

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




Other testing options

In addition to carrier screening, we also offer: noninvasive prenatal testing (NIPT) and serum screening for Down syndrome and other conditions; diagnostic testing options for post-pregnancy or further confirmation of screening tests; and hereditary cancer screening.

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