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CHARGE Syndrome: CHD7

Alternate test name

CHARGE Association, Coloboma, Heart Anomaly, Choanal Atresia, Genital Anomalies, Ear Anomalies, Hall-Hittner Syndrome

Gene name / Alternate gene name
  • CHD7
  • IS3; KAL5
Chromodomain-helicase-DNA-binding protein 7
Lab area
Genome Diagnostics - Molecular Genetics
Method and equipment
Deletion/duplication analysis via MLPA; Sequencing
Expected turn-around time
Prenatal samples: 2 weeks Pregnancy/STAT: 2-3 weeks Routine: 4-6 weeks
Specimen type

Blood; extracted DNA will not be accepted for the MLPA portion of this test.

If sending a prenatal sample, please contact the laboratory prior to sending sample to discuss sample requirements.

For details about specimen requirements, please refer to: Specimen Type & Requirements (PDF).

Specimen requirements
  • Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate); 
  • DNA-minimum 10 ug in 100 uL low TE (pH8.0)
Storage and transportation

Room Temperature

For details about specimen requirements, please refer to: Specimen Type and Requirements

DNA extracted at an external lab is not accepted for MLPA testing.

Special requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Shipping information
The Hospital for Sick Children
Division of Genome Diagnostics
555 University Avenue, Black Wing, Room 3416
Toronto, ON
M5G 1X8
Phone: 416-813-7200 ext. 2
Hours: Monday to Friday, 8 a.m. to 4:30 p.m.
Off hours: Please send to Rapid Response Laboratory, 555 University Avenue, Room 3642
Email Molecular Lab:
Email Cytogenetics:
Background and clinical significance

CHARGE syndrome is an autosomal dominant condition involving many organ systems. The four major common characteristics of CHARGE syndrome are coloboma of the eye, choanal atresia or stenosis, cranial nerve dysfunction or anomaly and characteristic CHARGE ear with inner, middle and outer ear malformations. Minor characteristics are congenital heart defects, hypoplastic genitals, cleft palate and/or lip and a characteristic CHARGE face and hand. Patients with CHARGE syndrome can vary in which of the features they have and the degree of severity of each feature.

See related information sheet: CHARGE Syndrome

Disease condition

CHARGE Syndrome

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