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Fragment analysis for the normal and premutation range in patients tested for Fragile X syndrome. The figure depicts results from a female with 19 and 29 CGG repeats in the 5’ UTR of the FMR1 gene. These repeat sizes are within the normal range. |
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Inherited Disorders
Ashkenazi Jewish Screening
The American College of Medical Genetics and the American College of Obstetricians and Gynecologists are currently recommending that Cystic Fibrosis, Tay Sachs, Canavan, and Familial Dysautonomia testing should be offered to all Ashkenazi Jewish individuals who are planning a pregnancy, or as part of their prenatal care. We offer screening for these diseases in the Ashplex-1 test panel and for Cystic Fibrosis separately. More comprehensive testing is also available with the Ashplex Extended screening test. The Ashplex-1 screening test detects the most common mutations in Tay Sachs Disease, Canavan Disease, Familial Dysautonomia and Fanconi Anemia type C. The Ashplex extended screening test detects the most common mutations in Tay Sachs Disease, Canavan Disease, Familial Dysautonomia, Fanconi Anemia type C Mucolipidosis type IV, Niemann Pick Disease type A, Glycogen Storage Disease type Ia, and Bloom Syndrome.
Thalassemia
Hemoglobin disorders caused by an absence or reduction of one or more of the globin chains are called thalassemias. The hallmark of these autosomal recessive disorders is an imbalance of globin chain synthesis. For alpha thalassemia, we offer molecular genetic testing to evaluate the presence of the normal alpha 2 gene, identify the seven deletions most commonly encountered, and the alpha thalassemia mutation that results in Hemoglobin Constant Spring. In addition, comprehensive sequencing of the beta globin gene is offered.
Other Inherited Disorders
We also offer molecular genetic testing for achondroplasia and hypochondroplasia (skeletal disorders leading to short stature); craniosynostosis syndromes (associated with abnormal shape of the head); Duchenne and Becker muscular dystrophies; disorders associated with hearing loss (Connexin 26 and 30 related hearing loss and Pendred syndrome); disorders associated with mental retardation (Fragile X and Prader-Willi syndromes); inherited diffuse gastric cancer and other inherited conditions.
