Laboratory Services

UMMC Medical Genetics specialists offer comprehensive evaluation and treatment for known or suspected inherited disorders including:

Cytogenetics 

Testing can be performed on blood, bone marrow, amniotic fluid, or solid tissue. Tissue culture and cryopreservation are also available.

• FISH (fluorescent in-situ hybridization diagnostics testing) for certain syndromes (e.g., Angelman, cri-du-chat, DiGeorge (22q- or velocardiofacial), Kallman, Miller-Dieker, Prader-Willi, retinoblastoma, Smith-Magenis, Williams and Wolf-Hirschhorn)
• FISH for oncological/hematological disorders
• High-resolution chromosome banding

Biochemical genetics

• Biotinidase measurement
• Carbohydrate deficient transferring studies
• Cerebrospinal fluid amino acid and neurotransmitter analysis
• G-6-PD quantification
• Lysosomal enzyme measurements
• Plasma amino acid analysis
• Plasma carnitine level and acylcarnitine profile
• Plasma lactate and pyruvate quantification
• Purine/pyrimidine pane
• Spinal muscular atrophy DNA analysis
• Sulfocysteine
• Supplemental newborn screen
• Urine glycosaminoglycans (mucopolysaccharides)
• Urine oligosaccharides
• Urine organic acid analysis
• Very long chain fatty acid measurement

Molecular genetics

• Complete genomic hybridization (CGH) microarray studies (assays hundreds of DNA microdeletions or microduplications)
• Prader-Willi/Angelman syndrome DNA methylation studies