Invitae Farber Lipogranulomatosis Test
Use
The Invitae Farber Lipogranulomatosis Test analyzes the ASAH1 gene, which is associated with Farber lipogranulomatosis. This test is useful for the diagnosis of patients in whom Farber lipogranulomatosis is suspected due to clinical symptoms or biochemical findings. Identification of disease-causing variants provides accurate risk assessment and carrier status of at-risk relatives.
Special Instructions
Not provided.
Limitations
Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions <15bp in length, and exon-level deletions and duplications. However, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
ASAH1
Gene
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)
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