Cost 
$1,000.00
TAT 
4 weeks
CPT Code 
81406
Test Code 
1159
Test Methods 
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA
Disorders 
Genes 
Notes 
If sending saliva, 2 kits are required.

Clinical diagnosis of CHARGE syndrome requires 4 major signs or 3 major signs along with 3 minor signs: 

Major signs:
  • Coloboma Choanal atresia
  • Characteristic ear abnormalities
  • Cranial nerve dysfunction

Minor signs:

  • Genital hypoplasia
  • Developmental delay
  • Orofacial cleft
  • Growth deficiency
  • Cardiovascular malformations
  • Tracheoesophageal fistula
  • Distinctive facial features

Detectable mutations or deletions in the CHD7 gene account for approximately 65% of patients with CHARGE syndrome. Up to 10% of patients are found to have a microdeletion, while approximately 53-65% are found to have a heterozygous mutation in CHD7.

Deletions and/or duplications of the CHD7 gene as causative of CHARGE syndrome have been reported.