|CHD7 Gene Sequencing (CHARGE Syndrome)||
Analysis of the entire coding region: Sequence analysis
Polymerase chain reaction (PCR)
|Container Type||Container Size||Specimen Volume|
Purple tube (EDTA)
|4 mL||4 mL|
Room temperature - 24 hour(s)
Refrigerated - 72 hour(s)
- 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).