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