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Hyperkalemic Periodic Paralysis
Clinical Genetic Test
Help
offered by
Medical Genetics Laboratory
GTR Test Accession: Help GTR000332376.2
INHERITED DISEASENERVOUS SYSTEMMETABOLIC DISEASE ... View more
Last updated in GTR: 2015-02-09
View version history
Last annual review date for the lab: 2024-03-08 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Screening
Conditions (1): Help
Hyperkalemic periodic paralysis
Genes (1): Help
SCN4A (17q23.3)
Methods (2): Help
Molecular Genetics - Sequence analysis of the entire coding region: PCR with allele specific hybridization; ...
Target population: Help
Patients with periodic paralysis
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Medical Genetics Laboratory
View lab's website
Test short name: Help
HYPP
Specimen Source: Help
  • Isolated DNA
  • Peripheral (whole) blood
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Physician Assistant
Test Order Code: Help
HYPP
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Contact Dr. Moon-Yong Park by e-mail ([email protected])
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Yes
Test strategy: Help
Sequence analysis of the entire coding region; Targeted mutation analysis
View citations (1)
  • Song YW, Kim SJ, Heo TH, Kim MH, Kim JB. Normokalemic periodic paralysis is not a distinct disease. Muscle Nerve. 2012;46(6):914-6. doi:10.1002/mus.23441. Epub 2012 Aug 24. PMID: 22926674.
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Lab contact for this test
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
PCR with allele specific hybridization
Targeted variant analysis
Oligonucleotide hybridization-based DNA sequencing
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Screening
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Song YW, Kim SJ, Heo TH, Kim MH, Kim JB. Normokalemic periodic paralysis is not a distinct disease. Muscle Nerve. 2012;46(6):914-6. doi:10.1002/mus.23441. Epub 2012 Aug 24. PMID: 22926674.

Target population: Help
Patients with periodic paralysis
View citations (1)
  • Song YW, Kim SJ, Heo TH, Kim MH, Kim JB. Normokalemic periodic paralysis is not a distinct disease. Muscle Nerve. 2012;46(6):914-6. doi:10.1002/mus.23441. Epub 2012 Aug 24. PMID: 22926674.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
http://www.uniprot.org/

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Clinical validity, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Confirmation: Help
http://www.uniprot.org/
Test Comments: Help
Mutation panel: Leu689Ile, Ile693Thr, Thr704Met, Ala1156Thr, Met1360Val, Met1370Val, Phe1490Leu, Met1493Ile, Ile1495Phe, Val1564Ile, Met1592Val (identified by sequence analysis of exons 13, 23, and 24)
We offer tiered testing for HYPP. One can order just the targeted mutation test (three exons) or targeted mutation with reflex to the full gene sequencing.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
100,100,100
View citations (1)
  • Song YW, Kim SJ, Heo TH, Kim MH, Kim JB. Normokalemic periodic paralysis is not a distinct disease. Muscle Nerve. 2012;46(6):914-6. doi:10.1002/mus.23441. Epub 2012 Aug 24. PMID: 22926674.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory
VUS:
Software used to interpret novel variations Help
PolyPhen-2

Laboratory's policy on reporting novel variations Help
Contacting the person ordering the test
Recommended fields not provided:
Assay limitations, Description of internal test validation method, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.