CHD7 Gene Sequencing
GTR Test Accession: Help GTR000508734.2
Last updated in GTR: 2022-06-16
Last annual review date for the lab: 2023-06-16 Past due LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Risk Assessment; ...
CHARGE syndrome
Genes (1): Help
CHD7 (8q12.2)
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Patients with a diagnosis of CHARGE syndrome or Hypogonadotropic hypogonadism-5 …
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Michigan Medical Genetics Laboratories
View lab's website
View lab's test page
Test short name: Help
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Provide appropriate sample, relevant clinical information and a completed requisition form.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    OrderCode: CHD7S
Confirmation of research findings
    OrderCode: CLIFS
Custom Sequence Analysis
    OrderCode: CLIFS
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Test strategy: Help
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 1
Method Category Help
Test method Help
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina NextSeq 550
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; Screening
Clinical utility: Help
Target population: Help
Patients with a diagnosis of CHARGE syndrome or Hypogonadotropic hypogonadism-5 with or without anosmia.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Follow ACMG guidelines, suggest family study

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. by Phone or secure email
Recommended fields not provided:
Technical Information
Test Procedure: Help
Using new sample
Test Confirmation: Help
Using new sample
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical Sensitivity 99-100% Accuracy 100% Precision 100%
Assay limitations: Help
Does not detect large deletions, duplications and rearrangement in the CHD7 gene region. It does not detect promoter or deep intronic mutations.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Software used to interpret novel variations Help
SIFT, PolyPhen2, RESCUE-ESE Web Server, Berkeley Drosophila Genome Project

Laboratory's policy on reporting novel variations Help
Contact ordering physician by phone and by routine report; recommend clinical genetics follow up and/or genetic counseling and parental testing
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.