Periodic paralysis Panel
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000528703.1
INHERITED DISEASEMETABOLIC DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2015-11-30
Last annual review date for the lab: 2023-06-06 LinkOut
At a Glance
Diagnosis
Hypokalemic periodic paralysis, type 1; Familial periodic paralysis; Hyperkalemic periodic paralysis; ...
Genes (5): Help
CACNA1S (1q32.1), KCNE3 (11q13.4), KCNJ2 (17q24.3), KCNJ5 (11q24.3), SCN4A (17q23.3)
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
Not provided
Not provided
Ordering Information
Test Order Code: Help
ION11
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 4
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 5
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
For diagnostic sequencing we require a minimal coverage of 30 high-quality, uniquely mapping non-duplicate reads over at least 97% of the target region. At this level, the lowest expected sensitivity is 99.998%. Pathogenic and unclear variants are resequenced using Sanger sequencing, providing a second, independent, confirmation.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
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.