DiabetesNow Comprehensive Genetic Panel
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000596384.1
INHERITED DISEASEDIGESTIVE SYSTEMENDOCRINOLOGY ... View more
Last updated in GTR: 2021-11-08
Last annual review date for the lab: 2023-06-14 LinkOut
At a Glance
Diagnosis; Predictive; Prognostic; ...
Maturity onset diabetes mellitus in young
ABCC8 (11p15.1), APPL1 (3p14.3), BLK (8p23.1), CEL (9q34.13), GCK (7p13), ...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS)
those with atypical diabetes of any age
Not provided
Guidance for management
Ordering Information
Offered by: Help
Test short name: Help
DiabetesNow
Specimen Source: Help
Who can order: Help
  • Health Care Provider
  • Licensed Physician
  • Out-of-State Patients
  • Physician Assistant
  • Registered Nurse
Test Order Code: Help
DiabetesNow Comprehensive Diabetes Panel
CPT codes: Help
**AMA CPT codes notice
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
contact gopath labs to review ordering instructions and coordination for genetic counseling or email geneticsnowsupport@gopathlabs.com
Order URL
Test service: Help
molecular genomic testing
    Comment: MODY and Type 1 and 2 diabetes
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 1
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: 1
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina HiSeq™2000 system
Clinical Information
Test purpose: Help
Diagnosis; Predictive; Prognostic; Screening
Target population: Help
those with atypical diabetes of any age
View citations (7)
  • Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. Fajans SS, et al. N Engl J Med. 2001;345(13):971-80. doi:10.1056/NEJMra002168. PMID: 11575290.
  • Naylor RN, John PM, Winn AN, Carmody D, Greeley SA, Philipson LH, Bell GI, Huang ES. Cost-effectiveness of MODY genetic testing: translating genomic advances into practical health applications. Diabetes Care. 2014;37(1):202-9. doi:10.2337/dc13-0410. Epub 2013 Sep 11. PMID: 24026547.
  • Colclough K, Saint-Martin C, Timsit J, Ellard S, Bellanné-Chantelot C. Clinical utility gene card for: Maturity-onset diabetes of the young. Eur J Hum Genet. 2014;22(9). doi:10.1038/ejhg.2014.14. Epub 2014 Feb 12. PMID: 24518839.
  • ISPAD Clinical Practice Consensus Guidelines 2014. The diagnosis and management of monogenic diabetes in children and adolescents. Rubio-Cabezas O, et al. Pediatr Diabetes. 2014;15 Suppl 20:47-64. doi:10.1111/pedi.12192. PMID: 25182307.
  • Oram RA, Patel K, Hill A, Shields B, McDonald TJ, Jones A, Hattersley AT, Weedon MN. A Type 1 Diabetes Genetic Risk Score Can Aid Discrimination Between Type 1 and Type 2 Diabetes in Young Adults. Diabetes Care. 2016;39(3):337-44. doi:10.2337/dc15-1111. Epub 2015 Nov 17. PMID: 26577414.
  • Lynam A, McDonald T, Hill A, Dennis J, Oram R, Pearson E, Weedon M, Hattersley A, Owen K, Shields B, Jones A. Development and validation of multivariable clinical diagnostic models to identify type 1 diabetes requiring rapid insulin therapy in adults aged 18-50 years. BMJ Open. 2019;9(9):e031586. doi:10.1136/bmjopen-2019-031586. Epub 2019 Sep 26. PMID: 31558459.
  • Monogenic diabetes: a gateway to precision medicine in diabetes. Zhang H, et al. J Clin Invest. 2021;131(3). doi:10.1172/JCI142244. PMID: 33529164.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Interpretation and classification of clinical significance of the detected variant are based on catalogued information from the NCBI ClinVar database (http://www.ncbi.nlm.nih.gov/clinvar/variation/), LOVD database (http://databases.lovd.nl/ shared/genes/) and other locus specific databases as well as information from published literatures

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

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided. our GeneticsNow service covers it all - please use our website www.gopathlabs.com or email geneticsnowsupport@gopathlabs.com
Sample reports:
Sample Negative Report Help
Sample Negative Report

Sample Positive Report Help
Sample Positive Report

Sample VUS Report Help
Sample VUS Report
Recommended fields not provided:
Technical Information
Test Platform:
Illumina Infinium HD HumanCytoSNP-12
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
A total of 38 samples with known germline variants were selected for the validation study of the assay. Twenty-nine out of 38 samples selected for the validation study contained at least 1 variant and a total of 52 known variants were included for the analysis. All known variants had been … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
VUS:
Software used to interpret novel variations Help
NextGENe

Laboratory's policy on reporting novel variations Help
formal reports
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
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.