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Paediatric Laboratory Medicine

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