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Test Code 9947

Congenital Methemoglobinemia via the CYB5R3 Gene

CYB5R3

2 - 3 weeks (7 - 16 days STAT)

Who is this test for?
  • Individuals with relevant features who have a clinical or suspected diagnosis of congenital methemoglobinemia
  • Reproductive partners of individuals with a known pathogenic variant in the CYB5R3 gene

Method
NGS with CNV (Exome or Genome Platform)
Specimen(s)

Exome Platform: Blood, DNA, Buccal, Saliva, Tissue

Genome Platform: Blood, DNA

Order Options

Platform
Test type
OTHER OPTIONS
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