CHARGE Syndrome: CHD7
CHARGE Association, Coloboma, Heart Anomaly, Choanal Atresia, Genital Anomalies, Ear Anomalies, Hall-Hittner Syndrome
- IS3; KAL5
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).
- Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
- DNA-minimum 10 ug in 100 uL low TE (pH8.0)
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 Instructions for Genome Diagnostics Samples
If sample shipment >48 hours, ship on ice.
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
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