Human Genetics

The Human Genetics Program offers comprehensive genetic services including clinical evaluation, genetic counseling, and specialized biochemical and cytogenetic laboratory services. The program offers a wide range of specialized laboratory tests. Some of the studies the Biochemical Genetics Laboratory performs are studies to diagnose inborn errors of organic acid metabolism, amino acid metabolism and enzyme deficiencies

The Cytogenetics Laboratory performs chromosomal analysis on amniotic fluid, peripheral blood, chorionic villi, bone marrow and other tissue samples using various banding techniques and chromosomal breakage. Fluorescent in situ hybridization (FISH) is now performed in our laboratory and enables the detection of chromosomal rearrangements at the gene level including the detection of small deletions found in patients with Prader-Willi, Angelman and Miller-Deiker syndromes and in uniparental disomies. Molecular genetic methodology also allows for the evaluation of female carriers for Fragile X syndrome as well as the accurate determination of affected males for this syndrome. The genetics clinics offer evaluation, diagnosis, counseling, and treatment for patients with genetic disorders or whose families have genetic disorders. The genetics clinics are located in: Tulane Medical Center, Medical Center of Louisiana (formerly Charity Hospital) in New Orleans, and regional satellite clinics statewide through the Louisiana Office of Public Health's Genetic Diseases Program. A faculty member who is board-certified in Maternal-Fetal Medicine and board eligible in Clinical Genetics joined the Program in 1992 and offers preconception genetic counseling, genetic evaluation of recurrent miscarriage, fetal anomaly assessment, and specific diagnostic procedures such as chorionic villus sampling, traditional amniocentesis as well as early amniocentesis at the 11th-12th week of pregnancy.