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

Protein

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

Canada

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: molecular.lab@sickkids.ca

Email Cytogenetics: cytogenetics.requests@sickkids.ca

Requisition

CHARGE Syndrome: CHD7 - requisition

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