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Maturity-onset Diabetes of the Young Panel
Clinical Genetic Test
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offered by
Genetic Diagnostic Laboratory
GTR Test Accession: Help GTR000558434.1
INHERITED DISEASEDIGESTIVE SYSTEMENDOCRINOLOGY ... View more
Last updated in GTR: 2017-10-23
View version history
Last annual review date for the lab: 2023-06-21 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Monitoring; Mutation Confirmation; ...
Conditions (14): Help
Maturity-onset diabetes of the young type 2; Insulin-resistant diabetes mellitus AND acanthosis nigricans; Maturity-onset diabetes of the young type 1; ...
Genes (15): Help
ABCC8 (11p15.1), AKT2 (19q13.2), BLK (8p23.1), CEL (9q34.13), GCK (7p13), ...
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Microarray; ...
Target population: Help
It is estimated that about 1-2% of individuals with diabetes …
Clinical validity: Help
The most common molecular defects associated with MODY are in …
Clinical utility: Help
Guidance for selecting a drug therapy and/or dose
Ordering Information
Offered by: Help
Genetic Diagnostic Laboratory
View lab's website
Test short name: Help
MODY panel
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Fetal blood
  • Isolated DNA
  • Peripheral (whole) blood
  • Product of conception (POC)
  • Saliva
  • Skin
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
Submit test-specific paperwork with sample of blood or saliva
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
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, Lab contact for this test, Test strategy
Conditions Help
Total conditions: 14
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
Microarray
Agilent SureSelect
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Ion Torrent
Clinical Information
Test purpose: Help
Diagnosis; Monitoring; Mutation Confirmation; Pre-symptomatic; Predictive; Recurrence; Therapeutic management
Clinical validity: Help
The most common molecular defects associated with MODY are in the GCK, HNF1A, HNF4A and HNF1B genes. About 80% of individuals with MODY will have a mutation in one of the 4 genes listed above. See table on page 2 for summary frequency of genes related to MODY along with … View more
View citations (3)
  • Review on monogenic diabetes. Steck AK, et al. Curr Opin Endocrinol Diabetes Obes. 2011;18(4):252-8. doi:10.1097/MED.0b013e3283488275. PMID: 21844708.
  • Gardner DS, Tai ES. Clinical features and treatment of maturity onset diabetes of the young (MODY). Diabetes Metab Syndr Obes. 2012;5:101-8. doi:10.2147/DMSO.S23353. Epub 2012 May 01. PMID: 22654519.
  • Maturity-onset diabetes of the young (MODY): an update. Anık A, et al. J Pediatr Endocrinol Metab. 2015;28(3-4):251-63. doi:10.1515/jpem-2014-0384. PMID: 25581748.
Clinical utility: Help
Guidance for selecting a drug therapy and/or dose
View citations (1)
  • Maturity onset diabetes of the young: clinical characteristics, diagnosis and management. Kavvoura FK, et al. Pediatr Endocrinol Rev. 10(2):234-42. PMID: 23539835.

Target population: Help
It is estimated that about 1-2% of individuals with diabetes have a primary insulin secretion defect relatedto MODY. Features indicative of MODY include hyperglycemia diagnosed before the age of 25, a family history consistent with autosomal dominant inheritance of diabetes, significant C-peptide levels, and absence of obesity (Vaxillaire et al. … View more
View citations (1)
  • Vaxillaire M, Froguel P. Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes. Endocr Rev. 2008;29(3):254-64. doi:10.1210/er.2007-0024. Epub 2008 Apr 24. PMID: 18436708.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Our lab has created a variant classification system which is based on the American College of Medical Genetics and Genomics guidelines (Genet Med. 2015 May;17(5):405-24).

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
Yes. Ordering physician will be notified by mail, fax or email with updated information for variant.
Recommended fields not provided:
Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Confirmation: Help
Independent replicate.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sequencing: Multiplex PCR and Next Generation Sequencing of coding regions and flanking intronic regions on IonTorrent platform of 15 genes: ABCC8, AKT2, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, INSR, KCNJ11, KLF11, NEUROD1, PAX4, and PDX1. Targeted coverage is >100X per amplicon. Sanger sequencing is performed for regions in specific … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
VUS:
Software used to interpret novel variations Help
SIFT, PolyPhen

Laboratory's policy on reporting novel variations Help
Novel variations will be reported with added interpretation based on variant type and in the context of known mutations for the specific gene.
Recommended fields not provided:
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: 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.