A genetic disorder is a disease caused by a different form of a gene, or an alteration of a gene.

Genetic tests are performed to findgenetic disorders. Doctors use these tests for various reasons, such as:

  • Find possible genetic diseases in unborn babies
  • Find out if people carry a gene for a disease and might pass it on to their children
  • Confirm a diagnosis in a person who has disease symptoms

People have many different reasons for being tested or not being tested. For many people, it is important to know whether a disease can be prevented or treated if a gene alteration is found. Test results might help a person make critically important decisions.

CDL Laboratories offers the following tests:

  • Cystic Fibrosis Carrier Testing (40 mutations)
  • Ashkenazi Jewish Carrier Testing
    The following panel of tests are offered to patients who are Ashkenazi Jewish:
    • Bloom Syndrome
    • Canavan Disease
    • Cystic Fibrosis
    • Familial Dysautonomia
    • Fanconi Anemia Type C
    • Gaucher Disease
    • Joubert Syndrome 2
    • Mucolipidosis Type IV
    • Niemann-Pick Disease, Types A and B
    • Tay-Sachs Disease
    • Maple Syrup Urine Type 1B (MSUD Type 1B)
    • Glycogen Storage Disease-Type 1A
    • Dihydrolipoamide Dehydrogenase Deficiency (DLD)
    • Familial Hyperinsulinism
    • Nemaline Myopathy 2
    • Usher Syndrome Type 1F
    • Usher Syndrome Type 3
    • Walker-Warburg Syndrome
  • Fragile-X Carrier Testing

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