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Test Code 10265

Congenital Hyperinsulinism Panel

9 genes

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 hyperinsulinism (CHI)
  • Individuals with disease onset in the neonatal period or early infancy
  • Individuals with diazoxide-unresponsive hypoglycemia requiring aggressive medical management
  • Reproductive partners of individuals with a known pathogenic variant in CHI-associated genes
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
for pricing.

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