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.
This assay will not detect large deletions in the CHD7 gene or intronic mutations outside the region sequenced in the CHD7 gene.
- Chromodomain helicase DNA binding protein 7
- CHARGE Syndrome
- Hypogonadotropic hypogonadism-5 (HH5)
- ATP-Dependent Helicase CHD7
- Kallmann Syndrome
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….
By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes medical geneticist interpretation of results billed as a separate additional charge. This test is not available without interpretation.