Maturity-onset diabetes of the young (MODY)
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000569106.1
ENDOCRINOLOGYINHERITED DISEASEDIGESTIVE SYSTEM ... View more
Last updated in GTR: 2019-10-09
Last annual review date for the lab: 2023-08-03 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Maturity onset diabetes mellitus in young; Maturity-onset diabetes of the young type 1; Maturity-onset diabetes of the young type 2 more...
Genes (5): Help
GCK (7p13); HNF1A (12q24.31); HNF1B (17q12); HNF4A (20q13.12); POMC (2p23.3)
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Not provided
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Ordering Information
Offered by: Help
Institute of Human Genetics
View lab's website
Test short name: Help
MODY
Who can order: Help
  • Licensed Physician
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Genetic counseling
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 7
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 5
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 3
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Sequence analysis of the entire coding region
Uni-directional Sanger sequencing
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The sensitivity of DNA sequencing is over 99% for the detection of nucleotide base changes, small deletions and insertions in the regions analyzed.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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