Biochemical Genetic Testing
What is biochemical genetic testing?
Biochemical genetic testing involves the study of enzymes in the body which may be abnormal in some way. They may be deficient or absent, unstable, or have altered activity which can lead to clinical manifestations in a child (i.e., birth defects). These types of disorders are usually called "inborn errors of metabolism" since they are present a birth and affect how the body's metabolism works. Metabolism is a term which describes how the body converts food to energy, and then gets rid of the waste products.
There are more than 200 enzyme defects that can be studied in humans. Sometimes, rather than studying the gene mutation which is causing the enzyme to be defective in the first place, it is easier to study the enzyme itself (which is the product of the gene). The approach depends on the disorder. For example, mutations in the gene which causes Tay Sachs disease can be studied, but are not 100 percent accurate. By performing a laboratory test for the enzyme that is deficient in Tay Sachs, you can pick up more cases than through DNA testing. Biochemical genetic studies may be done from a blood sample, urine sample, spinal fluid, or other tissue sample
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Contact information:
Raymond Lewandowski, MD
Medical Director, GeneticistOfelia Rivera
Office ManagerDeborah Dansby
Sonographer SupervisorDenise Dominguez
Valley SupervisorAndrea Ramirez
Senior Genetic CounselorCPSST - Driscoll Genetics Services
5920 Saratoga Blvd. 540
Corpus Christi, Texas 78414
Phone: (361) 694-1600 or (361) 985-6600
Fax: (361) 985-6603
Hours 8-5 pmCPSST - Driscoll Genetics Services -Brownsville
1096 Los Ebanos, Suite B
Brownsville, TX 78520
Phone: (956) 544-5663
Fax: (956) 544-7386CPSST - Driscoll Genetics Services - Harlingen
2220 Haine Dr., Suite #46
Harlingen, TX 78550
Phone: (956) 428-0897
Fax: (956) 428-0899CPSST - Driscoll Genetics Services - McAllen
1910 S. First St., Suite #500
McAllen, TX 78501
Phone: (956) 686-0503
Fax: (956) 668-0503
Hours: 8 – 5 Monday – Friday
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