Invitae Fabry Disease Test
Use
This test analyzes the GLA gene, providing molecular analysis to diagnose Fabry disease. It is crucial for individuals with a clinical diagnosis of Fabry disease, suspected cases, or family history. The test also enables diagnosis of heterozygous females, where enzymatic studies may fail due to X-inactivation, hence aiding in identifying females who might appear clinically asymptomatic but are carriers or manifesting heterozygotes.
Special Instructions
Consider testing for individuals with a confirmed or suspected diagnosis of Fabry disease, or those with a family history. Given that enzymatic assays may give inconclusive results in females, molecular analysis is recommended. The test analyzes single nucleotide variants and small insertions/deletions comprehensively, while also checking exon-level deletions/duplications for the targeted gene regions.
Limitations
While the test is highly sensitive (>99%) for single nucleotide variants and small indels, marginally reduced accuracy may occur for larger indels. The test excludes detection of structural rearrangements like inversions or translocations, and may not fully resolve mosaicism, phasing, or promoter sequence changes. Regions or variant types not covered are specified in detailed test definitions available on the Invitae website.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)