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Non-syndromic Monogenic Obesity Panel
Clinical Genetic Test
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offered by
Genetic Services Laboratory
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GTR Test Accession: Help GTR000552458.4
CAP
NUTRITIONAL DISEASEINHERITED DISEASEENDOCRINOLOGY ... View more
Last updated in GTR: 2021-01-19
View version history
Last annual review date for the lab: 2023-07-18 LinkOut
At a Glance
Test purpose: Help
Risk Assessment; Predictive; Diagnosis; ...
Conditions (8): Help
Monogenic Non-Syndromic Obesity, Autosomal Recessive; Abdominal obesity-metabolic syndrome 3; Diabetes mellitus; ...
Genes (15): Help
ADCY3 (2p23.3), CEP19 (3q29), DYRK1B (19q13.2), KSR2 (12q24.22-24.23), LEP (7q32.1), ...
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Not provided
Clinical validity: Help
Obesity occurs when abnormal amounts of triglycerides are stored in …
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Genetic Services Laboratory
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Registered Nurse
  • Licensed Physician
  • Physician Assistant
  • Nurse Practitioner
Test Order Code: Help
81407
View other test codes
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

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
•All samples should be shipped via overnight delivery at room temperature.
•No weekend or holiday deliveries.
•Label each specimen with the patient’s name, date of birth and date sample collected.
•Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Test additional service: Help
Custom mutation-specific/Carrier testing
Custom Prenatal Testing
Informed consent required: Help
No
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 8
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 15
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Risk Assessment; Predictive; Diagnosis; Recurrence; Therapeutic management
Clinical validity: Help
Obesity occurs when abnormal amounts of triglycerides are stored in adipose tissuse and released as free fatty acids with detrimental effects. Dietary and lifestyle factors, and epigenetic modifications play a role in excess fat accumulation. Obesity is correlated with an increased risk of type-2-diabetes, cardiovascular disease, cancer and mortality. Obesity … View more
View citations (1)
  • Herrera BM, Keildson S, Lindgren CM. Genetics and epigenetics of obesity. Maturitas. 2011;69(1):41-9. doi:10.1016/j.maturitas.2011.02.018. Epub 2011 Apr 03. PMID: 21466928.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Variants are identified and evaluated using a custom collection of bioinformatic tools and comprehensively interpreted by our team of directors and genetic counselors.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Research:
Is research allowed on the sample after clinical testing is complete? Help
http://dnatesting.uchicago.edu/research-consent-form
Recommended fields not provided:
Clinical utility, Target population, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical Sensitivity 99-100% Accuracy 100% Precision 100%
Assay limitations: Help
This assay covers the coding and immediate flanking regions of the included genes. Variants in the promoter region and in other non-coding regions will not be detected. Variants that occur within regions of high homology and/or repetitiveness may not be detected due to issues with alignment. The technical sensitivity of … View more
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
VUS:
Software used to interpret novel variations Help
A custom collection of bioinformatics tools

Laboratory's policy on reporting novel variations Help
The laboratory reports novel variants.
Recommended fields not provided:
Test Confirmation, Citations to support 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
Not provided
Additional Information
Consumer resources:

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.