Definition

Heterozygous pathogenic variants in the INS gene lead to misfolding of proinsulin, ER stress, and beta cell dysfunction. INS variants are the second most common cause of permanent neonatal diabetes after KCNJ11; more rarely, they may present as childhood or adult onset diabetes (MODY10).

Gene/region analyzed

INS - Whole Gene

Method

Sequence analysis

Accepted sample types

EDTA Blood

Inheritance

Hereditary, autosomal dominant (de novo in most neonatal cases).

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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