Single-gene screening
Focused screening for specific disorders
While we offer a comprehensive test—Inheritest®, which can screen for more than 500 severe hereditary genetic disorders—some patients have an interest in screening for a specific disorder, such as cystic fibrosis.
For these patients, Integrated Genetics offers single-gene screening. Search below for details about specific disorders and corresponding tests.
Most Common Single-Gene Screens
Other Single-Gene Screens
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Bloom syndrome
Disorder information Test detailsCanavan disease
Disorder information Test detailsDihydrolipoamide dehydrogenase deficiency
Disorder information Test detailsFamilial dysautonomia
Test detailsFamilial hyperinsulinism
Disorder information Test detailsFanconi anemia
Disorder information Test detailsGaucher disease
Disorder information Test detailsGlycogen storage disease
Disorder information Test detailsJoubert syndrome 2
Disorder information Test detailsMaple syrup urine disease
Disorder information Test detailsMucolipidosis type IV
Disorder information Test detailsNemaline myopathy
Disorder information Test detailsNiemann-Pick type A
Disorder information Test detailsTay-Sachs disease
Disorder information Test detailsUsher syndrome
Disorder information Test detailsWalker-Warburg syndrome and other FKTN related dystrophies
Disorder information Test details
Other testing options
In addition to carrier screening, we also offer: noninvasive prenatal screening (NIPS/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.
Additional Resources
Understanding Costs
Use our cost estimator get an immediate estimate for most tests we offer based on your specific insurance plan (so have your policy number handy).
Understand Your Results
If you have already had a test, we can answer questions about your results.
Genetic Counseling
Genetic counselors translate and communicate genetic information into practical, understandable terms.