Definition

The X-linked ABCD1 gene encodes the transporter protein responsible for the uptake of very long-chain fatty acids (VLCFA) across the peroxisomal membrane; loss of function leads to the accumulation of VLCFA in the white matter of the brain and the adrenal cortex. The clinical spectrum includes the rapidly progressive childhood cerebral form (CCALD) and adult-onset adrenomyeloneuropathy (AMN); about 65% of heterozygous female carriers develop symptoms (usually myelopathy) by age 60.

Gene/region examined

ABCD1 - Exon 1, ABCD1 - Exon 2, ABCD1 - Exon 3, ABCD1 - Exon 4, ABCD1 - Exon 5, ABCD1 - Exon 6, ABCD1 - Exon 7, ABCD1 - Exon 8, ABCD1 - Exon 9, ABCD1 - Exon 10

Method

Sequence analysis

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Hereditary, X-linked.

Related Tests

Inheritance Patterns

Describes how a genetic condition is passed on within a family. There are five main patterns

Go to term →

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

Go to term →

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.

Go to term →

How to Read a Genetic Test Result (Positive / Negative / VUS)

A genetic test result falls into three main categories

Go to term →

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.

Go to term →