Fragile X | Genomic Diagnostics

Test description

Caused by inherited mutations in the FMR1 gene, Fragile X syndrome is the most common cause of familial intellectual disability. This is an X-linked disorder with a complex clinical phenotype.

Test information

Test name

Fragile X

Clinical indication

For the investigation of intellectual disability, developmental delay, autism, late-onset ataxia, neurodegeneration or premature ovarian failure.
Risk assessment of a relative of a person with an FMR1 mutation

Gene(s)

FMR1

Method

PCR Fragment Sizing

Turn around time

2 weeks

Medicare eligibility

73300 – criteria apply

Price

If not MBS eligible, please contact 1800 822 999 for pricing details

Test request form

Standard pathology request form

Sample type

Blood

Collection type

6mL EDTA tube

Special instructions

None