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General
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Clinical Use:
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Maturity-Onset Diabetes of the Young (MODY) is a form of monogenic diabetes mellitus characterized by young age of onset (usually before the age of 25 years), negative islet cell antibody testing, autosomal dominant inheritance and pancreatic ß-cell dysfunction with impaired insulin secretion but minimal or no defects in insulin action.
Massively parallel sequencing of cardiometabolic genes with targeted analysis of MODY genes (HNF4A, GCK, HNF1A, PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS, BLK, ABCC8, KCNJ11, PPARG). |
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Availability:
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Aliases/Synonyms:
| Maturity Onset Diabetes in the Young, |
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Code:
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BMODY |
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Handling Instructions (to laboratory):
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Send sample ambient. |
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Hyperlink:
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Reference Interval:
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Not Applicable
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Collection Requirements
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Container:
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EDTA (LAVENDER), |
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Sample Type:
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See container |
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Minimum Collection Volume:
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Collection Instructions:
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Laboratory requires a copy of signed patient consent, and MODY probability: (https://www.diabetesgenes.org/mody-probability-calculator/) |
Processing Requirements
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Alternate Containers:
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Processing Instructions:
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Minimum Assay Volume:
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Stability:
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Transport Instructions (to testing laboratory):
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Send sample ambient. |
Testing Locations
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Performed at:
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Section
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Department
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Site
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Contact Phone
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| Cardiovascular Genetics |
Biochemistry |
Fiona Stanley Hospital |
6152 8128 |
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Last Updated : 08-10-2020 12:50 |