Invitae Hereditary Moyamoya Disease Panel
Use
The Invitae Hereditary Moyamoya Disease Panel analyzes genes associated with hereditary moyamoya disease, a rare chronic cerebrovascular condition. Genetic testing of these genes may help confirm a clinical diagnosis, predict disease prognosis and progression, aid in early detection of symptoms, inform family planning and genetic counseling, or promote enrollment in clinical trials.
Special Instructions
Not provided.
Limitations
Analytical sensitivity and specificity exceed 99% for single nucleotide variants, insertions, and deletions smaller than 15bp. Variants in regions outside the analyzed sequences are not included. Structural rearrangements and variants embedded in complex sequence regions may not be detected. Single-exon copy number events might not be analyzed in rare situations. The assay does not cover non-coding exons, promoter regions and may not resolve mosaicism or phasing.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
GUCY1A1, RNF213
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)
Other tests from different labs that may be relevant