Fragile X syndrome
Use
Fragile X-associated disorders (FXD) are a group of genetic conditions caused by changes in the FMR1 gene and include fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI). FXD can cause intellectual disabilities, autism spectrum disorders, behavioral changes, imbalance, tremor, memory problems, and decreased ovarian function.
Special Instructions
Please note: Fragile X testing cannot be performed on prenatal specimens. We offer family variant testing for all blood relatives of patients who undergo full single gene sequencing, multigene panel testing or exome sequencing at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. Testing must be completed within 90 days of the original report date.
Limitations
The technical testing limitations include the inability to detect all variants in the FMR1 gene due to current technology limits. Additionally, there are standard laboratory limitations like sample mix-up, inaccuracies in patient information, and technical issues that may lead to inaccurate results. Some DNA or protein changes causing diseases may not be detected by this test.
Methodology
PCR-based (PCR)
Biomarkers
Result Turnaround Time
7-14 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Container
Standard blood collection tube
Collection Instructions
Blood/saliva from patients with a history of allogenic bone marrow or stem cell transplant cannot be used for genetic testing.
Causes for Rejection
Blood/saliva from patients with active hematological disease is not recommended.