Genetic Disorders

Genetic tests are done by analyzing small samples of blood or body tissues. They determine whether you, your partner, or your baby carry genes for certain inherited disorders. Genetic testing has developed enough so that doctors can often pinpoint missing or defective genes. The type of genetic test needed to make a specific diagnosis depends on the particular illness that a doctor suspects. Many different types of body fluids and tissues can be used in genetic testing. For DNA based genetic testing, only a very tiny bit of blood, skin, bone, saliva or other tissue is needed.

SERVICES

RETTE SYNDROME MUTATION ANALYSIS

Detection of disease-causing mutations in the MECP2 gene confirms the clinical diagnosis of Rett syndrome. Testing is also applicable to females with partial phenotypes, males with unexplained neonatal encephalopathy, individuals with Angelman-type symptoms with no molecular abnormality of chromosome 15q11.2-q13, and individuals with X-linked mental retardation with a negative Fragile X test.

FACTOR V (G1691A) MUTATION

Factor V G1691A (FV-Leiden) and prothrombin G20210A mutations are major inherited risk factors for venous thrombosis. And also both mutations, through stimulation of venous and placental thrombosis events, were strongly associated with recurrent idiopathic miscarriages. Thrombosis of placental vessels is a multi-causal in nature and may involve both acquired and inherited risk factors leading to recurrent fetal loss. The former is exemplified by smoking, obesity, oral contraceptive use, long immobilization, and surgery, while the latter reportedly involved specific point mutations in blood coagulation factors. These included the factor VG1691A mutation (also referred as FV-Leiden), prothrombin G20210A mutation.

FACTOR II (G20210A) MUTATION

Factor V G1691A (FV-Leiden) and prothrombin G20210A mutations are major inherited risk factors for venous thrombosis. And also both mutations, through stimulation of venous and placental thrombosis events, were strongly associated with recurrent idiopathic miscarriages. Thrombosis of placental vessels is a multi-causal in nature and may involve both acquired and inherited risk factors leading to recurrent fetal loss. The former is exemplified by smoking, obesity, oral contraceptive use, long immobilization, and surgery, while the latter reportedly involved specific point mutations in blood coagulation factors. These included the factor VG1691A mutation (also referred as FV-Leiden), prothrombin G20210A mutation.

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