Definition

Primary immunodeficiencies (PID) are a broad group encompassing more than 450 distinct single-gene disorders that impair the development or function of one or more components of the immune system. Clinically they present with recurrent/severe infections, autoimmunity, lymphoproliferation and susceptibility to malignancy; each subtype is associated with a different gene.

Gene/region examined

MYD88 - L265P

Method

Sequence analysis

Accepted sample types

EDTA blood

Inheritance

Hereditary, inheritance pattern varies by subtype (autosomal dominant, recessive or X-linked).

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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