Invitae Inherited Platelet Disorders Including Thrombocytopenia Panel
Use
The test analyzes genes associated with disorders of platelet number or function. These disorders are characterized by bleeding symptoms such as excessive bruising, purpura, excessive bleeding after surgery or trauma, nosebleeds, petechiae, and menorrhagia in women. It provides a broad panel for inherited disorders of platelet function which are genetically heterogeneous, allowing for an efficient evaluation of many potentially relevant genes based on a single clinical indication.
Special Instructions
The GP1BB gene is not offered on this panel. Sequencing for the GP1BA gene is limited to 11 variants. You can customize this test by clicking genes to remove them.
Limitations
This assay has >99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions 15bp but <exon-level have marginally reduced sensitivity. Cannot fully resolve certain details like mosaicism, phasing, or mapping ambiguity. Sequence changes in promoter, non-coding exons, and other non-coding regions are not covered. In rare cases, single-exon copy number events may not be analyzed due to inherent sequence properties or data quality reduction.
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)