ORDER A GENETIC TEST REQUEST A SPECIMEN COLLECTION KIT
18+ years of age
Episodic muscle weakness/paralysis attacks or episodic pain after attacks (more than one occurrence)
Episodes are provoked by at least one of the common triggers for hyperkalemic or hypokalemic primary periodic paralysis
Specimen samples for this program are accepted from the US only.
Paralytic episodes with concomitant hyperkalemia (serum potassium concentration >5 mmol/L) or a serum potassium increase of at least 1.5 mmol/L during an attack
Triggers may include13
Paralytic episodes with concomitant hypokalemia (<2.5 mmol/L)
Triggers may include14
The Invitae Periodic Paralysis Panel includes analysis for both hyperkalemic and hypokalemic periodic paralysis.
Testing with the Invitae Periodic Paralysis Panel includes analysis of the following four most common associated genes: SCN4A, CACNA1S, KCNJ2, and RYR1.
If desired, re-requisition to the larger Invitae Comprehensive Neuromuscular Disorders Panel within 90 days of original test report.
Turnaround time for the panel is rapid: once Invitae receives the sample, you will receive results within 10 to 21 calendar days (14 days on average).
Invitae’s board-certified genetic counselors are available on-demand Monday through Friday, 5 am to 5 pm Pacific time, to help review patient cases, differentiate between test options, and aid in interpreting results.
Strongbridge Biopharma and Invitae offer no-cost family variant testing to any blood relative of a patient newly diagnosed through the Uncovering Periodic Paralysis genetic testing program.
A pathogenic or likely pathogenic variant was found on the Uncovering Periodic Paralysis gene panel test
Order must be placed within 90 days of the original test report
|Place your order||Collect a specimen||Results|
To place a paper-based order, download the paper order form.
To place an order online, enter the online ordering portal.
To place a family variant testing order, download the paper family variant testing form.
To collect a specimen:
To receive results:
References: 1. Data on file. Available from Strongbridge Biopharma plc. 2. National Institutes of Health. Hyperkalemic periodic paralysis. Available at: https://ghr.nlm.nih.gov/condition/hyperkalemic-periodic-paralysis. Accessed December 5, 2016. 3. National Institutes of Health. Hypokalemic periodic paralysis. Available at: https://ghr.nlm.nih.gov/condition/hypokalemic-periodic-paralysis. Accessed December 5, 2016. 4. National Institutes of Health. Anderson-Tawil syndrome. Available at: https://ghr.nlm.nih.gov/condition/andersen-tawil-syndrome. Accessed December 5, 2016. 5. National Institutes of Health. Potassium-aggravated myotonia. Available at: https://ghr.nlm.nih.gov/condition/potassium-aggravated-myotonia. Accessed December 5, 2016. 6. National Institutes of Health. Paramyotonia congenita. Available at: https://ghr.nlm.nih.gov/condition/paramyotonia-congenita. Accessed December 5, 2016. 7. Greig SL. Dichlorphenamide: a review in primary periodic paralyses. Drugs. 2016;76:501-507. 8. Charles G, Zheng C, Lehmann-Horn F, Jurkat-Rott K, Levitt J. Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals. J Neurol. 2013;260:2606-2613. 9. Arya SN. Periodic paralysis. J Indian Acad Clin Med. 2002;3:374-382. 10. Cannon SC. Channelopathies of skeletal muscle excitability. Compr Physiol. 2015;5:761-790. 11. Cavel-Greant D, Lehmann-Horn F, Jurkat-Rott K. The impact of permanent muscle weakness on quality of life in periodic paralysis: a survey of 66 patients. Acta Myol. 2012;31:126-133. 12. Fontaine B, Phillips LH 2nd. A newly approved drug for a rare group of diseases: dichlorphenamide for periodic paralysis. Neurology. 2016;86:1366-1367. 13. Weber F, Jurkat-Rott, Karin, Lehmann-Horn F. Hyperkalemic Periodic Paralysis. NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health. 2016. 14. Vicart S, Sternberg D, Arzel-Hezode M, et al. Hypokalemic Periodic Paralysis. NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health. 2014.