UCGL offers a complete list of biochemical, molecular, and cytogenetic tests with interpretation & consultation as necessary. The biochemical genetics laboratory has a metabolic and an enzymatic section. The amino and organic acid analysis of physiological fluids (CSF, Plasma & Urine) for diagnosis of inborn errors of metabolism is conducted at the metabolic section. The enzymatic section offers screening tests that will help with diagnosis of lysosomal storage disease and disorders related to galactose metabolism. We are the reference laboratory of choice for many Newborn Screening Centers (NSC) throughout the United States because of our economical, accurate, timely, and complete galactosemia disease testing. Other assays such as lactate/pyruvate or carnitine levels for monitoring the metabolic function before and after treatment are also available. The Cytogenetics Laboratory offers a complete and modern analysis of chromosomes. Utilizing high resolution banding and breakage techniques we are able to analyze the chromosomes in amniotic fluid, blood, bone marrow, cord blood, chorionic villus, solid tissue, and tumor cell lines. The Fluorescence In Situ Hybridization (FISH) technique is used for microdeletion studies on amniotic fluid, blood, bone marrow and skin cells. We provide the highest quality banding with the fastest turnaround time while having the highest possible tissue culture success rate. The cytogenetic laboratory's mission is to be 100% accurate. The Molecular Genetics Laboratory utilizes up-to-date polymerase chain reaction (PCR), dot blot and southern blot methodologies to detect gene deletions or mutations. Our Mitochondrial DNA mutation analysis is one of the most thorough and economical test available in the nation. We also offer DNA tests for Fragile X, Myotonic Dystrophy, Duchenne/Becker Muscular dystrophy, MCAD, LCHAD, Phenylketonuria, Hemophilia A, Factor V Leiden, Glycogen Storage Disease Type 1a, Hereditary Fructose Intolerance, Prader Willi/Angelman, Spinal Muscular Atrophy, and Identity test.