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Test Code 10239

Congenital Central Hypoventilation Syndrome (CCHS) Panel

7 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 central hypoventilation syndrome  
  • Individuals with symptom onset in the first 30 days of life (neonatal-onset) or after one month (later-onset) 
  • Individuals with neuroblastoma or Hirschsprung's disease who also have symptoms of CCHS
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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