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Tests and Services

Biochemical Genetics and Metabolic Disease Testing


The Biochemical Genetics and Metabolic Disease Laboratory at Children’s National Medical Center provides biochemical genetics, and metabolic disease testing and diagnosis for common and rare biochemical and molecular disorders. Using the most modern genetic diagnostic techniques, including throughput sequencing and DNA microchip technology and stable isotope dilution mass spectrometry technology, the laboratory provides interpretation of tests and consultations with a rapid turnaround time. It is unique in providing assays on filter paper, micro-samples for ease of collection, storage, and shipment.

Among the tests offered are:
  • Acylcarnitine testing
  • Benzoic acid
  • DNA analysis for fragile X syndrome
  • MSUD Panel
  • MTHFR thermolabile variant
  • N-Acetylglutamate synthethase deficiency (NAGS)
  • Neuroblastoma testing (HVA, VMA)
  • PKU panel
  • Prothrombin gene mutation
  • Phenylacetic acid
  • Phenylbutyric acid
  • Rapid urine organic acid screen
  • Selected urea cycle disorders
  • STAT testing
  • Urine and plasma amino acid analysis

Biochemical Genetics and Metabolic Disease Testing - Departments & Programs - Children's National Medical Center