Diagnostic Test Directory

Molecular Genetics Laboratory

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CHARGE Syndrome (CHD7 Deletion Analysis)

  • Synonyms: Kallmann syndrome, Hall-Hittner syndrome


    Collect whole blood in a purple top (EDTA) tube (preferred). Extracted DNA is also acceptable.

    Volume Required

    5 ml whole blood or 1 ug DNA

    Minimum Required

    3 ml whole blood


    Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday within 24 hours of collection.


    Whole blood can be refrigerated until shipment.

    Unacceptable conditions

    Heparinized specimens, severely hemolyzed specimens, frozen, clotted or possibly commingled specimens, blood in non-sterile or leaky containers, mislabeled or inappropriately labeled specimens.

    Specimen Handling

    Do not heat, freeze or centrifuge blood before shipment. Refrigerate sample until shipment.

Days Performed

Mon - Fri 9:00am to 4:00pm


4-6 weeks



Disease Information

Clinical Features:

CHARGE is a multi system disorder consisting of Coloboma, Heart defects, choanal Atresia, Retarded growth and development, Genital abnormalities, and Ear anomalies. The majority of cases are sporadic and only a few familial cases have been reported. A consistent feature in CHARGE syndrome is semicircular canal hypoplasia resulting in vestibular areflexia. Other commonly associated congenital anomalies are facial nerve palsy, cleft lip/palate, and tracheo-oesophageal fistula. Specific behavioural problems, including autistic-like behavior, have been described. Mutations in the CHD7 gene are associated with CHARGE syndrome. Apart from the typical features of CHARGE syndrome, there is evidence to show that mutations in the CHD7 gene also result in Idiopathic Hypogonadotropic-Hypogonadism (IHH) and Kallmann Syndrome (KS) (postulated to be milder allelic variants of CHARGE syndrome). IHH patients present with absent or impaired sexual development and infertility. KS patients have IHH coupled with the inability to smell (anosmia).

Molecular Genetics:

CHD7, encoding the chromodomain helicase DNA binding protein, is the only gene currently known to be associated with CHARGE syndrome. CHD7 consists of 38 exons and encodes a 2997-residue protein. Missense, nonsense, splice-site mutation, small insertion/deletion mutations and large deletions of the CHD7 gene have been identified throughout the gene. Germline mosaicism has been reported previously.

Test Methods:

Large deletions and duplications will be detected using multiplex ligation-dependent probe amplification assay (MLPA).

Detection Rate:

Partial or complete gene deletions have been identified in ~ 6% of CHARGE patients.

Related Tests:

Sequence analysis of the CHD7 gene is available. Known mutation analysis of the CHD7 gene is available to family members for mutations previously identified by sequence analysis or deletion/duplication analysis. Prenatal testing is available to individuals who are confirmed carriers of mutations in the CHD7 gene. Please contact the laboratory director to discuss appropriateness of testing prior to collecting a prenatal specimen.


Test results with interpretation will be mailed and/or faxed to the referring physician following completion of the test. Additional reports will be provided as requested.


The clinical utility of the assay is to support a clinical diagnosis of the disease, facilitate genetic counseling, assess the risk to other first degree relatives and to facilitate testing of at - risk family members.

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