Definition

Variants in genes that impair telomere maintenance (DKC1, TERT, TERC, TINF2, RTEL1, PARN, etc.) lead to abnormally short telomeres in cells. The classic picture consists of the triad of dystrophic nails, reticular pigmentation and oral leukoplakia; patients have an increased risk of progressive bone marrow failure, myelodysplastic syndrome/leukemia and pulmonary fibrosis.

Gene/region analyzed

TERT - C228T, TERT - C250T

Method

Sequence analysis

Accepted sample types

EDTA blood

Inheritance

Hereditary; depending on the gene, X-linked recessive (DKC1), autosomal dominant or autosomal recessive (TERT and others).

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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