Common Genetic Disorders

Currently there are more than 1000 genetic disorders for which testing is available on a clinical or research basis. Most of these disorders are rare, and many genetic tests are expensive and complex to perform. For these reasons, it is not possible to test a person or a fetus for all possible genetic disorders. A physician or genetic counselor must use the information he or she has about a patient's ancestry, family history, and medical history to determine which genetic testing is most likely to be of value. A few of the most common genetic disorders for which tests are offered are

• Cystic Fibrosis
• Down Syndrome
• Fragile X Syndrome
• Inherited Thrombophilias (Factor V Leiden, Factor II)
• Jewish Heritage Screening (Bloom Syndrome, Canavan Disease, Cystic Fibrosis, Familial Dysautonomia, Fanconi Anemia, Gaucher Disease, Mucolipidosis Type IV, Niemann-Pick Disease, Tay-Sachs Disease )
• Klinefelter Syndrome
• Open neural tube defects
• Sickle Cell Disease
• Triple X Syndrome
• Thalassemia
• Trisomy 13
• Trisomy 18
• Turner Syndrome