GTR Test Accession:
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GTR000596384.1
Last updated in GTR: 2021-11-08
View version history
GTR000596384.1, last updated: 2021-11-08
Last annual review date for the lab: 2023-06-14
Past due
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At a Glance
Test purpose:
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Diagnosis;
Predictive;
Prognostic; ...
Conditions (1):
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Maturity onset diabetes mellitus in young
Genes (15):
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Methods (1):
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Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
those with atypical diabetes of any age
Clinical validity:
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Not provided
Clinical utility:
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Guidance for management
Ordering Information
Offered by:
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Test short name:
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DiabetesNow
Specimen Source:
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- Peripheral (whole) blood
- Saliva
- View specimen requirements
Who can order: Help
- Health Care Provider
- Licensed Physician
- Out-of-State Patients
- Physician Assistant
- Registered Nurse
Contact Policy:
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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.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order:
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contact gopath labs to review ordering instructions and coordination for genetic counseling or email geneticsnowsupport@gopathlabs.com
Order URL
Order URL
Test service:
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molecular genomic testing
Comment: MODY and Type 1 and 2 diabetes
Comment: MODY and Type 1 and 2 diabetes
Test development:
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Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required:
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Yes
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 15
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina HiSeq™2000 system
Clinical Information
Test purpose:
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Diagnosis;
Predictive;
Prognostic;
Screening
Clinical utility:
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Guidance for management
View citations (1)
- On the problem of oncogene of tumour viruses. Mekler LB, et al. Acta Virol. 1975;19(6):501-8. doi:10.1159/000149898. PMID: 1. Fajans SS, et al. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med. 2001;345(13):971-80. 2. Naylor RN, et al. Cost-effectiveness of MODY genetic testing: translating genomic advances into practical health applications. Diabetes Care. 2014 Jan;37(1):202-9. 3. Colclough K, et al. Clinical utility gene card for: Maturity-onset diabetes of the young. Eur J Hum Genet. 2014 Sep;22(9). 4. Rubio-Cabezas O, et al. ISPAD Clinical Practice Consensus Guidelines 2014 Compendium. The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes. 2014 Sep; 15 Suppl 20: 47-64. 5. Sharp SA, Rich SS, Wood AR, et al. Development and Standardization of an Improved Type 1 Diabetes Genetic Risk Score for Use in Newborn Screening and Incident Diagnosis. Diabetes Care 2019;42(2):200-207 6. Xue A, Wu Y, Zhu Z, et al. Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for typ.
Target population:
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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?
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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
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?
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Yes.
Yes.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Not provided. our GeneticsNow service covers it all - please use our website www.gopathlabs.com or email geneticsnowsupport@gopathlabs.com
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
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Sample Negative Report
Sample Positive Report Help
Sample Positive Report
Sample VUS Report Help
Sample VUS Report
Sample Negative Report
Sample Positive Report Help
Sample Positive Report
Sample VUS Report Help
Sample VUS Report
Recommended fields not provided:
Clinical validity,
Will the lab re-contact the ordering physician if variant interpretation changes?,
Is research allowed on the sample after clinical testing is complete?
Technical Information
Test Platform:
Illumina Infinium HD HumanCytoSNP-12
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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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 …
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Intra-Laboratory
Yes
Method used for proficiency testing: Help
Intra-Laboratory
VUS:
Software used to interpret novel variations
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NextGENe
Laboratory's policy on reporting novel variations Help
formal reports
NextGENe
Laboratory's policy on reporting novel variations Help
formal reports
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Not provided
Additional Information
Clinical resources:
Molecular resources:
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.