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Genetics

Laboratory Services

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

Cytogenetics 

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

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