Diagnostic Tests

Prenatal

Maternal Serum Alpha-Fetoprotein and Other Serum Markers
Prenatal Testing-Amniotic Fluid
Prenatal Testing-Chorionic Villi

Molecular

Cystic Fibrosis
Fragile X Syndrome
Leber Hereditary Optical Neuropathy (LHON) and Mitochondrial Encephalomyopathies (MELAS, MERRF and NARP)
Alpha-1-Antitrypsin Deficiency
Prader-Willi Syndrome and Angelman Syndrome
Duchenne/Becker Muscular Dystrophy
Gaucher Disease
Tay-Sachs Disease
Primary Venous Thrombosis Due To A Common Factor V Mutation
DNA Banking
Screening for Apolipoprotein E (Alzheimer Disease Susceptibility Gene) in Dementia Patients
Genetic Testing for Breast and Ovarian Cancer BRCA1 and BRCA2 Common Mutations in the Ashkenazi Jewish Population
Spinal Muscular Atrophy

Comparative Genomic Hybridization

Diagnosis of Mental Retardation/Developmental Delay

Biochemical

Amino Acid Disorders
Galactosemia
Biotinidase Deficiency
Organic Aciduria
Mucopolysaccharidoses: Screening by Analysis of Glycosaminoglycans
Defects of the Carintine Cycle

Cytogenetics

Cytogenetics Tests Available

Prenatal Testing-Amniotic Fluid
Prenatal Testing-Chorionic Villi
Products of Conception Tissues from Aborted/Miscarried Fetuses
Blood Chromosome Analysis
Peripheral Blood Analysis-Special Techniques High Resolution Banding
Microdeletion Studies Using Fluorescence in Situ Hybridization

Cancer

Fluorescent in situ Hybridization (FISH) for Hematological Maligancies and Solid Tumors

Familial Cancer Program
Non-Random Chromosomal Abnormalities in Hematological Malignancies
Cytogenetics of Solid Tumors
Breast Cancer