Invitae Periodic Paralysis Panel
Use
The Invitae Periodic Paralysis Panel analyzes genes associated with hypokalemic periodic paralysis (HOKPP) and hyperkalemic periodic paralysis (HYPP). These are conditions characterized by muscle weakness or paralysis associated with low or high serum potassium levels. The test helps in confirming a clinical diagnosis, predicting disease prognosis and progression, detecting symptoms early, supporting family planning and counseling, and facilitating clinical trial enrollment.
Special Instructions
This assay does not currently include the KCNJ18 gene, which accounts for an estimated 3% of HOKPP cases. Consider additional testing for KCNJ18 if clinically appropriate and not previously performed.
Limitations
The analysis may not cover sequence changes in promoter, non-coding, and other non-coding regions unless explicitly guaranteed. Structural rearrangements, such as inversions or gene conversion events, as well as variants in complex sequence architecture, may not be detected. Certain variant details, like mosaicism or mapping ambiguity, may not be resolved. Some single-exon copy number events might not be analyzed because of sequence properties or data quality.
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)