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Laboratory Test Directory

CHD7 Gene Sequencing (CHARGE Syndrome)

Components

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
Preferred

Purple tube (EDTA)

4 mL 4 mL
Stability

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

Specimen Preparation

  • Do not centrifuge
  • Do not freeze
  • Transport to laboratory as soon as possible

Reasons for Rejection

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

Comments

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. This test is a full gene sequence analysis of the CHD7 gene. Presence of a deletion or mutation in this gene causes CHARGE syndrome. Although most CHARGE syndrome due to CHD7 mutation occur de novo, it can be inherited 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. Mutations in the CHD7 gene 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).

 

Forms

Lab Form

CPT Code

  • 81407