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  • Test code: 03373
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)
  • Alternate specimens:
    Saliva, assisted saliva, buccal swab and gDNA
  • Sample requirements
  • Request a sample kit
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Invitae Periodic Paralysis Panel

Test description

The Invitae Periodic Paralysis Panel analyzes genes that are associated with hypokalemic periodic paralysis (HOKPP) and hyperkalemic periodic paralysis (HYPP), conditions characterized by muscle weakness or paralysis with low or high serum potassium. These genes were curated based on the available evidence to date in order to provide analysis for HOKPP and HYPP. Some genes in this test may also be associated with additional unrelated disorders, which are not included in the list of disorders tested. Genetic testing of these genes may help confirm a clinical diagnosis, help predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counseling, or promote enrollment in clinical trials.

This assay does not currently include the KCNJ18 gene. Pathogenic variants in the KCNJ18 gene account for an estimated 3% of HOKPP. Additional testing for the KCNJ18 gene should be considered, if not yet performed and clinically appropriate.

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Primary panel (6 genes)

ATP1A2 CACNA1S KCNJ2 MCM3AP RYR1 SCN4A

  • Periodic Paralysis

To view the complete clinical description of this panel, click here.

Hyperkalemic periodic paralysis and hypokalemic periodic paralysis can be inherited in an autosomal dominant or autosomal recessive pattern.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

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. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, 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. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
ATP1A2 NM_000702.3
CACNA1S NM_000069.2
KCNJ2 NM_000891.2
MCM3AP NM_003906.4
RYR1 NM_000540.2
SCN4A NM_000334.4