Classic view of this page
CHARGE and Kallmann Syndrome
Clinical Genetic Test
Help
offered by
Genetics Laboratory
View lab's test page
LinkOut
GTR Test Accession: Help GTR000274676.4
CAP
INHERITED DISEASEENDOCRINOLOGYREPRODUCTIVE HEALTH ... View more
Last updated in GTR: 2023-04-05
View version history
Last annual review date for the lab: 2024-04-03 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Screening
Conditions (2): Help
CHARGE syndrome; Hypogonadotropic hypogonadism 3 with or without anosmia
Genes (3): Help
ANOS1 (Xp22.31); CHD7 (8q12.2); SEMA3E (7q21.11)
Methods (2): Help
Cytogenetics - FISH-metaphase: G-banding; ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Genetics Laboratory
View lab's website
View lab's test page
Specimen Source: Help
  • Amniotic fluid
  • Cord blood
  • Isolated DNA
  • Peripheral (whole) blood
Who can order: Help
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
Lab contact: Help
Shibo Li, MD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
shibo-li@ouhsc.edu
405-271-3590
Hui Pang, PhD, MD, ABP, FACMG, Lab Director
Hui-Pang@ouhsc.edu
405-271-4401
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
Billing information and lab requisition signed by patient or guardian must be included with the sample. When ordering confirmation testing for known familial mutation provide a copy of the lab report for the affected family member(s).
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, Test strategy
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 3
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
FISH-metaphase
G-banding
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Screening
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical Sensitivity >99%. Analytical Specificity >99%. Precision >99%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: Not Applicable
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.