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Genetic Testing

As part of your prenatal care, a genetic screening profile is offered to screen for several common inherited diseases that can be passed on to you baby.  The purpose of your DNA test is to look for mutation(s) known to be associated with several common inherited dieseases that can occur even without a family history.  The following statements are important to understand when deciding whether to proceed with testing:

1.  Testing is done on a small sample of blood and may also include an ultrasound

2.  Mutations are often different in different populations.  For the most accurate interpretation of the test results, information about your family history and ethnic background may be requested

3.  When DNA testing shows a mutation, the person is considered a carrier or is affected with that condition or disease depending on the inheritance pattern of the condition.  Your physician will consult with you on the results of your test and may recommend a genetic counselor to discuss the full meaning of the results. 

4.  When the DNA testing does not show a known mutation, the change that the person is a carrier or is affected is reduced.  There is still a chance to be a carrier or to be affected because the current testing cannot find all the possible changes within a gene.

5.  In some families, DNA testing might discover non-paternitiy (someone who is not the biological father), or some other previously unknown information about family relationships, such as adoption. 

6.  The decision to consent to or to refuse the above testing is entirely yours

7.  No test(s) will be performed and reported on your sample other than the one (s) authorized by your doctor , and any unused portion of your original blood sample will be destroyed within 2 months of receipt of the sample by the laboratory. 

8.  Genzyme Genetics will disclose the test results ONLY to your doctor or to his/her agent, unless otherwise authorized by the patient or required by law

 

At this time, we offer screening for the following conditions as listed below: 

Cystic Fibrosis

Fragile X Mutation

Spinal Muscular Atrophy

Jewish Panel

Down Syndrome Testing

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