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Laboratory Test Directory

CHD7 Gene Sequencing (CHARGE Syndrome)


Name Method Department Units
CHD7 Gene Sequencing (CHARGE Syndrome) Analysis of the entire coding region: Sequence analysis
Polymerase chain reaction (PCR)
Sanger sequencing
DNA extraction
Molecular Genetics

Specimen Requirements

Whole blood

Container Type Container Size Specimen Volume

Purple tube (EDTA)

4 mL 4 mL

Room temperature - 24 hour(s)
Refrigerated - 72 hour(s)

Specimen Preparation

  • Do not centrifuge
  • Do not freeze

Reasons for Rejection

  • Centrifuged specimen
  • Frozen specimen
  • Wrong collection tube
  • Clotted specimen
  • Delayed or improper handling


Please click on the Lab Form Link in the Forms Section to print and complete the Genetic Test Requisition Form. Submission of completed Genetic Test Requisition Form is required, and submission of informed consent form is recommended but not required.

This test is a full gene sequence analysis of the CHD7 gene. Presence of a deletion or pathogenic variant (mutation) in this gene causes CHARGE syndrome. Although most CHD7 pathogenic variants occur de novo in the affected patient, it can be inherited from a parent in autosomal dominant manner. CHARGE is a mnemonic that stands for Coloboma, Heart defects, choanal Atresia, Retarded growth and development, Genital abnormalities, and Ear anomalies. Sequence analysis of the CHD7 gene detects a mutation in about 65-70% of patients with clinical diagnosis of CHARGE syndrome. Pathogenic variants in the CHD7 gene can also cause hypogonadotropic hypogonadism type 5 with or without anosmia (Kallmann syndrome 5).

Targeted CHD7 mutation analysis is available for family members when familial mutation is known (see Test Code: FMLIS).


Lab Form

CPT Code

  • 81407