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Monogenic Diabetes (MODY) 5-Gene Evaluation - Athena #885
MessageThis test is currently only available in BHS CPRS. If you are a Bedford provider and wish to see this test offered in Bedford CPRS- please contact the Bedford Laboratory.
Test Code
MODY EVAL(ATH#885)
Includes
Preferred Specimen
Whole blood - Lavender EDTA - 3 tubes
Minimum Volume
Preferred: 8 mL
Minimum: 6 mL
Minimum: 6 mL
Transport Temperature
Room temperature. Avoid freezing.
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Sanger Sequencing, Multiplex Ligation-dependent Probe Amplification (MLPA)
Report Available
28 - 42 days
Reference Range
Provided with patient report in CPRS.
Clinical Significance
Type of disorder: Diabetes
Typical presentation: Non-ketotic hyperglycemia in non-obese individuals of any age
Indications for testing: Non-ketotic insulin-sensitive hyperglycemia in individuals of any age; Family history of diabetes
Disease(s) tested for: Maturity-Onset Diabetes of Young (MODY)
Utility: Detects deletions in the HNF4A, GCK, HNF1A, HNF1B genes and mutations in the HNF4A, GCK, HNF1A, HNF1B and IPF1
Typical presentation: Non-ketotic hyperglycemia in non-obese individuals of any age
Indications for testing: Non-ketotic insulin-sensitive hyperglycemia in individuals of any age; Family history of diabetes
Disease(s) tested for: Maturity-Onset Diabetes of Young (MODY)
Utility: Detects deletions in the HNF4A, GCK, HNF1A, HNF1B genes and mutations in the HNF4A, GCK, HNF1A, HNF1B and IPF1
Performing Laboratory
Athena Diagnostics, Inc.
200 Forest Street, 2nd Floor
Marlborough, MA 01752
Additional Information
Link to Athena Diagnostics test catalog
Last Updated: December 18, 2015
