SCN9A, Sodium Voltage-Gated Channel Alpha Subunit 9
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000552472.1
- Last updated: 2021-11-30
- Annual Review past due read more
- Test version history
- 552472.1, last updated: 2021-11-30
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Offered by Center for Human Genetics, Inc
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.SCN9A, Sodium Voltage-Gated Channel Alpha Subunit 9 (SCN9A)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation
Click Indication tab for more information.
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 is approximately 5-7 days)
- DNA: high-quality extracted DNA (minimum 25 micrograms)
In order to accurately report results, the following information must be provided on the accompanying requisition form:
-Patient name
-Patient date of birth
-Date the specimen was obtained
-Referring doctor’s name and contact information (phone, address, email, fax)
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: http://chginc.org/
Specimen source
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- CSequence analysis of the entire coding region
- Bi-directional Sanger Sequence Analysis
Not provided
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.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 reduced ability to differentiate between hot and cold).
Citations
Not provided
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