Definition

The SLC6A8 gene (Xq28) encodes the creatine transporter protein, which enables creatine transport into cells. Loss-of-function variants cause cerebral creatine deficiency syndrome type 1, characterized by intellectual disability, severe speech delay, behavioral abnormalities and seizures resulting from intracellular creatine deficiency; it accounts for approximately 1 to 2% of unexplained X-linked intellectual disability cases.

Gene/region examined

SLC6A8 - Whole Gene

Method

Sequence analysis

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Hereditary, X-linked (full effect in males, variable/mild effect in female carriers).

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 →