Chromodomain helicase DNA binding protein 7
Hypogonadotropic hypogonadism-5 (HH5)
ATP-Dependent Helicase CHD7
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The promoter region, the coding exons, and the adjacent consensus splice sites of the CHD7 gene are amplified using specific primers, and bidirectionally sequenced using a fluorescent method.
Analysis for the presence of CHD7 (OMIM: 608892) mutations in patients with a phenotype consistent with CHARGE syndrome (OMIM: 214800), Hypogonadotropic hypogonadism-5 with or without anosmia (HH5, OMIM: 612370).
Interpretive report provided.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
Collect specimen in a lavender top tube. Send intact specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained from the MMGL Molecular Genetics Laboratory by contacting the MLabs Client Services Center at 800-862-7284 or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….