Test Overview
Test Methodology

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.

Test Usage

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).

Reference Range *

Interpretive report provided.

Test Limitations

This assay will not detect large deletions in the CHD7 gene or intronic mutations outside the region sequenced in the CHD7 gene.

Test Details
Days Set Up
Monday - Friday
Analytic Time

28 days

Soft Order Code
CHD7S
MiChart Code
CHD7 Gene Sequencing
Synonyms
  • CHD7S
  • Chromodomain helicase DNA binding protein 7
  • CHARGE Syndrome
  • Hypogonadotropic hypogonadism-5 (HH5)
  • ATP-Dependent Helicase CHD7
  • Kallmann Syndrome
Laboratory
MMGL
Section
MMGL Molecular Genetics
Specimen Requirements
Collection Instructions

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….

Lavender Top Tube
Normal Volume
5 mL EDTA whole blood
Minimum Volume
2 mL EDTA whole blood
Additional Information

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.

Billing
CPT Code
81407
Fee Code
DA071
Pro Fee CPT
G0452-26
Prior Authorization
The Prior Authorization form is required for this test. Click here to download the PDF.
NY State Approved
No