Many genetic diseases are known to be caused by changes or variants in a single gene. These are known as single gene disorders. Single gene disorders are often called Mendelian disorders and are divided into categories depending on how they are inherited. The most common inheritance patterns are dominant, recessive and X-linked.
Single gene testing is performed to identify changes or variants in a single gene. We provide a comprehensive range of testing for childhood and adult single gene disorders.
The type of testing and who will require testing will depend on the inheritance pattern and type of variant being investigated.
Our single gene testing services include testing for triplet repeat disorders, carrier screening (for fragile X, cystic fibrosis or spinal muscular atrophy), methylation analysis (for Prader-Willi and Angleman syndromes) and mitochondrial genome testing. Specific test details can be found below.
Testing for single gene disorders is performed where a patient has presented with specific features of a condition or when there is a family history of the condition. Testing is typically arranged by a specialist like a paediatrician or neurologist. In some cases, a referral to see a genetic counsellor may be arranged prior to testing.
Please contact us for more information.
P: 1300 118 247
E: [email protected]
What are the different inheritance patterns for single gene disorders?
In most circumstances, we have two copies of every gene: one inherited from each of our biological parents.
Dominant disorders are caused when there is a variant in only one of the two gene copies.
Recessive disorders only occur when both copies of a gene carry a variant and in these circumstances both parents are usually asymptomatic carriers of a variant in one of their genes.
X-linked disorders are caused by variants in genes located on the X chromosome. Because males only have a single X chromosome, they are usually more severely affected than females who have two X chromosomes.