Definition

Culturing and karyotyping of fibroblasts obtained from a skin (punch) biopsy is used in cases where peripheral blood results are normal but clinical findings suggest mosaicism. Because mosaic distribution can vary between tissues, taking a biopsy from two different sites is recommended in suspicious cases.

Method

Cell culture

Accepted sample types

Skin tissue

Inheritance

Aimed at detecting mosaic (partly postzygotic, somatic) chromosome anomalies; a result differing from the blood karyotype suggests tissue-specific mosaicism.

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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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