CHARGE Syndrome: CHD7 Deletion/Duplication Analysis
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.
Test Name
CHARGE Syndrome: CHD7 Deletion/Duplication Analysis
Alternate Name/ Synonym
- CHARGE association
- Coloboma
- Heart Anomaly
- Choanal Atresia
- Retardation
- Genital anomalies
- Ear anomalies
- Hall-Hittner syndrome
Gene Name
- CHD7
Alternate Gene Name
IS3; KAL5
Test Code
CHARG
Division
Molecular Genetics
Method
Deletion/duplication analysis via MLPA
External Proficiency Testing
CAP
Turn Around Time
2 weeks (Prenatal samples), 2-3 weeks (Pregnancy/Urgent samples), 4-6 weeks (Routine)
Protein
Chromodomain-helicase-DNA-binding protein 7
Disease/Condition
CHARGE Syndrome
Specimen Type
Blood; we will not accept extracted DNA for 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).
Minimum Specimen Requirements
5-10 mL EDTA or ACD
0.5 mL EDTA (neonate)
Storage/Transportation
Room Temperature
Special Requirements
Special Instructions for Genome Diagnostics Samples
If sample shipment >48 hours, ship on ice.
Approval is not required
CPT Codes
81479
Shipping and Contact Information
The Hospital for Sick Children
Rapid Response Laboratory
170 Elizabeth Street, Room 3642
Toronto,
ON
M5G 2G3
Canada
Phone: 416-813-7200
Phone: 1-855-381-3212
Interpretation
Interpretation is provided in report
Information Sheet: CHARGE Syndrome