Definition

This is the application of the same SNP microarray technology to postnatal samples; it is used as a first-line genetic test in individuals with unexplained developmental delay, intellectual disability, autism spectrum disorder, or multiple congenital anomalies. It detects copy number variants (CNVs) and microdeletion/microduplication syndromes at a much higher resolution than classic karyotyping, but it cannot detect balanced translocations or inversions.

Method

SNP Array

Accepted sample types

Peripheral blood (EDTA)

Inheritance

Not applicable, the method can detect both hereditary (germline) and de novo CNVs; whether a result is hereditary is determined separately through parental testing.

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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