Invitae Familial Essential Thrombocythemia Panel
Use
The Invitae Familial Essential Thrombocythemia Panel analyzes genes associated with an inherited predisposition to essential thrombocythemia, characterized by excessive platelet production, bleeding or thrombotic episodes, bone marrow fibrosis, and/or progressive anemia. Familial essential thrombocythemia is a rare clinical disorder caused by inherited germline variants. This panel aims to detect such germline variants, distinguishing it from common somatically acquired mutations.
Special Instructions
This panel is intended for germline variant detection only and is not validated for somatic variants. Assay limitations and regions not covered, such as structural rearrangements and certain non-coding regions, are specified in the report. Exceptions and questions regarding specific analyses should be directed to client services.
Limitations
Variants such as structural rearrangements (e.g., inversions, translocations) and variants in complex sequences may not be detected. Detection of insertions and deletions larger than 15bp but smaller than a full exon may have reduced sensitivity. Single exon copy number events may not always be analyzed due to inherent sequence properties or isolated data quality issues. Sequence analysis does not cover promoter, non-coding exons, or other non-covered sequences unless explicitly stated.
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)