Definition

MODY is a monogenic form of diabetes that is inherited in an autosomal dominant manner and usually begins before age 25; the panel test screens together for the most common causes, the GCK, HNF1A, HNF4A, and HNF1B genes. In a large cohort tested on clinical suspicion, a positivity rate of ~30% was found; gene selection directly changes the treatment approach (no treatment needed with monitoring in GCK, sulfonylurea response in HNF1A/4A).

Gene/region examined

ABCC8, BLK, CEL, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, NKX2-2, PAX4, PDX1, RFX6, ZFP57, GLIS3, FOXP3, NEUROG3, G6PC2, GCK

Method

Next-Generation Sequencing, CNV Analysis

Accepted sample types

EDTA Blood

Inheritance

Germline/hereditary, an autosomal dominant familial condition.

Related Tests

Inheritance Patterns

Describes how a genetic condition is passed on within a family. There are five main patterns

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Carrier (Heterozygous / Homozygous)

Why it matters: In autosomal recessive inheritance, when each parent is a carrier (while both appear healthy), the chance of their child being born with the disease is 25% in each

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VUS (Variant of Uncertain Significance)

This is the situation where the test has detected a change in the DNA, but the role of this change in the development of disease is unconfirmed.

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How to Read a Genetic Test Result (Positive / Negative / VUS)

A genetic test result falls into three main categories

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Types of Genetic Tests

A genetic test is a type of medical test that detects changes in genes, chromosomes or proteins. Today there are more than 77,000 genetic tests available.

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