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SCN9A, Sodium Voltage-Gated Channel Alpha Subunit 9
Clinical Genetic Test
Help
offered by
Center for Human Genetics, Inc
View lab's test page
LinkOut
GTR Test Accession: Help GTR000552472.1
INHERITED DISEASENERVOUS SYSTEMCARDIOVASCULAR ... View more
Last updated in GTR: 2016-12-28
View version history
Last annual review date for the lab: 2021-11-30 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation
Conditions (4): Help
Channelopathy-associated congenital insensitivity to pain, autosomal recessive; Paroxysmal extreme pain disorder; Primary erythromelalgia; ...
Genes (1): Help
SCN9A (2q24.3)
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Target population: Help
Not provided
Clinical validity: Help
Recessive mutations in the SCN9A gene cause congenital insensitivity to …
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Center for Human Genetics, Inc
View lab's website
View lab's test page
Test short name: Help
SCN9A
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Registered Nurse
Test Order Code: Help
Small fiber neuropathy (SCN9A sequencing)
View other test codes
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

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
Submit specimen with requisition form.
Specimen requirements:
- Label tubes with patient’s full name and date of birth
- Blood: 2 lavender top (EDTA anticoagulant) tubes of blood (7-10 cc) from each adult. 1 lavender top tube of blood (3-5 cc) for children. Maintain sample at room temperature (sample stability …
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Order URL
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:
Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 4
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
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Clinical validity: Help
Recessive mutations in the SCN9A gene cause congenital insensitivity to pain, while dominant mutations cause primarily erythromelalgia (episodes of pain, redness and swelling in various parts of the body), channelopathy-associated insensitivity to pain, paroxysmal extreme pain disorder and small fiber neuropathy (a condition characterized by severe pain attacks and a … View more
Recommended fields not provided:
Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, 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
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The reliability of this result is approximately 99%.
Assay limitations: Help
Mosaicism may not be detected by this analysis.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
Recommended fields not provided:
Test Confirmation, Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
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.