Test Code 9723

Ornithine Transcarbamylase Deficiency via the OTC Gene

OTC

2 - 3 weeks (7 - 16 days STAT)

Who is this test for?	Individuals with relevant features who have a clinical or suspected diagnosis of ornithine transcarbamylase deficiency Individuals with an abnormal newborn screen or biochemical or lab test results suggestive of OTC deficiency, which may include: low citrulline and high glutamine by plasma amino acid analysis, possibly accompanied by elevated urine orotic acid concentration and/or hyperammonemia; respiratory alkalosis in an encephalopathic individual who is hyperventilating; unexpectedly low blood urea nitrogen (BUN) Reproductive partners of individuals with a known pathogenic variant in the OTC gene
Method	NGS with CNV (Exome or Genome Platform)
Specimen(s)	Exome Platform: Blood, DNA, Buccal, Saliva, Tissue Genome Platform: Blood, DNA

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Prevention Genetics