Classic view of this page
Paramyotonia Congenita
Clinical Genetic Test
Help
offered by
Medical Genetics Laboratory
GTR Test Accession: Help GTR000501215.2
INHERITED DISEASEMUSCULOSKELETALNERVOUS SYSTEM ... 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
Paramyotonia congenita of Von Eulenburg
Genes (1): Help
SCN4A (17q23.3)
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Oligonucleotide hybridization-based DNA sequencing
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
PMC
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
PMC
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
Please contact Dr. Moon-Yong Park by e-mail, phone, or fax
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Genetic counseling
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)
  • Neurology Asia 2011; 16(2) : 163 \u2013 166
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: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
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)
  • Neurology Asia 2011; 16(2) : 163 – 166

Target population: Help
Patients with periodic paralysis
View citations (1)
  • Neurology Asia 2011; 16(2) : 163 – 166
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 Procedure: Help
Sequence analysis of the entire coding region; Targeted mutation analysis
View citations (1)
  • Neurology Asia 2011; 16(2) : 163 – 166
Test Confirmation: Help
http://www.uniprot.org/
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
100,100,100
View citations (1)
  • Neurology Asia 2011; 16(2) : 163 – 166
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.