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SCN9A Gene Erythermalgia, primary NGS Genetic Test

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SCN9A Gene Erythermalgia, primary NGS Genetic Test

Short Name: SCN9A Erythermalgia NGS Test

Also known as: SCN9A Gene Erythromelalgia Genetic Test, SCN9A Mutation Analysis for Erythermalgia, Primary Erythromelalgia NGS Panel, Nav1.7 Channelopathy Genetic Test, Familial Erythermalgia DNA Test

SCN9A Gene Erythermalgia, primary NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation (if required), Bioinformatic Variant Calling on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)All Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The primary purpose of the SCN9A Gene Erythermalgia NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the SCN9A gene in individuals suspected of having primary erythermalgia. This test confirms a molecular diagnosis, distinguishes hereditary erythermalgia from secondary or acquired forms, guides treatment selection, enables family screening and genetic counselling, and provides prognostic information for affected individuals and their families.

Test Code
1619
CPT Code
81403
ICD Code
I73.81
Price
₹20,000
Sample Type
Blood or Extracted DNA or One Drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Confirmation (if required), Bioinformatic Variant Calling
Step 1

Sample Collection

No special preparation such as fasting is required. Provide a detailed clinical history of the patient and a pedigree chart of family members affected with erythermalgia. A pre-test genetic counselling session is recommended.

Method: Venipuncture

Step 2

Laboratory Analysis

A venipuncture is performed to collect 3-5 mL of whole blood in an EDTA tube, or a drop of blood may be applied to an FTA card. Alternatively, previously extracted DNA may be submitted.

Step 3

Report Delivery

Label the sample correctly with patient details. Store the sample at ambient room temperature. Transport the sample to the laboratory as per the provided instructions. Post-test genetic counselling is advised upon receipt of results.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:A genetic counselling session is recommended prior to testing to explain the implications of results. Provide a detailed clinical history and a pedigree chart of family members affected with erythermalgia. No fasting is required.
2
During the Test:A small blood sample (3–5 mL) is drawn via venipuncture into an EDTA tube, or a blood drop is applied to an FTA card. The procedure typically takes 5–10 minutes.
3
After the Test:After sample collection, patients may resume normal activities. The sample is processed at the laboratory using NGS technology. Results are typically available within 3 to 4 weeks and will be delivered via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

The primary purpose of the SCN9A Gene Erythermalgia NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the SCN9A gene in individuals suspected of having primary erythermalgia. This test confirms a molecular diagnosis, distinguishes hereditary erythermalgia from secondary or acquired forms, guides treatment selection, enables family screening and genetic counselling, and provides prognostic information for affected individuals and their families.

How to Prepare

  • Collect 3-5 mL venous blood in an EDTA (lavender top) vacutainer tube
  • Alternatively, apply one drop of blood to an FTA card and allow to dry completely
  • Previously extracted DNA (minimum 50 ng/µL, 260/280 ratio 1.7–2.0) may be submitted
  • Label the tube or card clearly with patient name, date of birth, and sample ID
  • Store at ambient room temperature (15–30°C); do not freeze whole blood samples
  • Transport to the laboratory within 48 hours of collection

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Primary erythermalgia is frequently underdiagnosed due to symptom overlap with other vascular and neurological conditions. SCN9A gene testing through next-generation sequencing provides a definitive molecular diagnosis, enabling targeted treatment strategies such as sodium channel blockers and avoiding mismanagement. I recommend this test for any patient presenting with recurrent burning pain, redness, and warmth in the extremities triggered by heat or exercise, particularly when a family history of similar symptoms is present."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One Drop Blood on FTA Card
Sample Volume3-5 mL whole blood
ContainerEDTA (Lavender Top) tube or FTA Card
Collection MethodVenipuncture

Sample Stability

Sample Rejection Criteria:
  • Sample collected in incorrect anticoagulant (e.g., heparin tube)
  • Insufficient sample volume
  • Sample hemolyzed, clotted, or contaminated
  • Missing or mismatched patient identification labels
  • Sample received without a signed test requisition form or clinical history

Understanding Your Results

The results of the SCN9A Gene Erythermalgia NGS Genetic Test are interpreted by qualified clinical geneticists. A positive result identifying a pathogenic or likely pathogenic variant in the SCN9A gene confirms a molecular diagnosis of primary erythermalgia and supports targeted management. A negative result suggests that SCN9A mutations may not be the cause; further clinical evaluation or testing of additional genes may be warranted. Variants of uncertain significance (VUS) require correlation with clinical phenotype and family segregation analysis.
📊

Confirms molecular diagnosis of primary erythermalgia due to SCN9A mutation. Supports targeted therapy (e.g., sodium channel blockers) and enables predictive family screening.

Action: Consult neurologist or geneticist for management. Offer genetic counselling to family members.

📊

A genetic change in SCN9A was identified but current evidence is insufficient to classify it as disease-causing. Does not confirm or exclude a diagnosis.

Action: Correlate with clinical findings. Consider family segregation studies. Periodic reclassification may be warranted.

📊

No disease-causing mutation was identified in the SCN9A gene. Does not completely exclude erythermalgia as other genes or non-genetic causes may be responsible.

Action: Discuss with treating physician. Consider whole exome sequencing or extended neuropathy gene panel if clinical suspicion remains high.

⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if you experience recurrent episodes of burning pain, redness, and swelling in the hands or feet—particularly if symptoms worsen with heat or exercise and improve with cooling. Seek prompt medical advice if skin ulcers develop, if symptoms are interfering with daily activities, or if there is a family history of similar symptoms.

Limitations

  • ⚠This test does not detect large genomic rearrangements, copy number variations, or deep intronic mutations outside flanking regions
  • ⚠Variants of uncertain significance (VUS) may be identified and cannot be definitively linked to disease without further evidence
  • ⚠A negative result does not completely exclude erythermalgia, as other genes or non-genetic factors may be involved
  • ⚠This test is not validated for prenatal diagnosis or preimplantation genetic testing

Risks & Considerations

  • ●Minor bruising or discomfort at the venipuncture site
  • ●Very rare risk of infection at the needle insertion point
  • ●Psychological impact of receiving genetic diagnosis; genetic counselling is advised

Interfering Factors

  • ●Recent blood transfusion within the past 4 weeks may affect DNA quality
  • ●Degraded or insufficient DNA yield from the sample
  • ●Contamination during sample collection or transport
  • ●Presence of somatic mosaicism may limit detection sensitivity

Compare With Similar Tests

TestSCN9A Gene Erythermalgia, primary NGS Genetic TestSanger Sequencing of SCN9AWhole Exome Sequencing (WES)Clinical Examination Alone
ComparisonSCN9A Gene Erythermalgia, primary NGS Genetic Test

Frequently Asked Questions

What is primary erythermalgia caused by SCN9A gene mutations?
Primary erythermalgia, also known as erythromelalgia, is a rare genetic disorder caused by gain-of-function mutations in the SCN9A gene. This gene encodes the Nav1.7 sodium channel, which plays a critical role in pain signal transmission. Mutations lead to hyperexcitable sensory neurons, resulting in episodes of burning pain, redness, warmth, and swelling in the extremities, typically triggered by heat or physical activity.
What does the SCN9A Gene Erythermalgia NGS Genetic Test involve?
The test uses next-generation sequencing (NGS) technology to analyze the entire coding region and flanking intronic sequences of the SCN9A gene. A small blood sample (3–5 mL) or a blood drop on an FTA card is collected and sent to the laboratory for DNA extraction, sequencing, bioinformatic analysis, and variant interpretation by expert geneticists.
Who should consider getting this genetic test?
This test is recommended for individuals experiencing recurrent episodes of burning pain, redness, and swelling in the hands or feet, particularly when symptoms are triggered by heat or exercise and improve with cooling. It is also indicated for patients with a family history of erythermalgia and those in whom secondary causes have been excluded.
What is the cost of the SCN9A Gene Erythermalgia NGS Genetic Test?
The cost of the SCN9A Gene Erythermalgia NGS Genetic Test at DNA Labs India is ?20,000. This price includes NGS sequencing, bioinformatic analysis, variant classification, clinical report interpretation by expert geneticists, and free home sample collection for online bookings across India.
What sample types are accepted for this test?
DNA Labs India accepts whole blood collected in an EDTA (lavender top) tube (3–5 mL), a single drop of blood on an FTA card, or previously extracted DNA (minimum concentration 50 ng/µL with a 260/280 ratio of 1.7–2.0).
How long does it take to receive the test results?
Results for the SCN9A Gene Erythermalgia NGS Genetic Test are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. The report is delivered via online portal, email, and WhatsApp.
Does DNA Labs India share raw sequencing data?
Yes. DNA Labs India transparently shares Raw Data, FASTQ, and VCF files along with the conclusive clinical report for this test. This allows independent verification and re-analysis as needed by your healthcare provider or geneticist.
Is fasting required before giving a sample for this test?
No, fasting is not required. The test analyzes DNA from blood cells, and dietary intake does not affect the quality or accuracy of the genetic analysis.
What does a positive result mean for me and my family?
A positive result, indicating a pathogenic or likely pathogenic SCN9A variant, confirms a molecular diagnosis of primary erythermalgia. Since this condition is typically autosomal dominant, first-degree family members have up to a 50% chance of carrying the same mutation. Genetic counselling is strongly recommended for family planning and screening of at-risk relatives.
Can a negative test result rule out erythermalgia completely?
A negative result means no pathogenic SCN9A mutation was identified but does not completely rule out erythermalgia. The condition may be caused by mutations in other genes or by non-genetic (acquired) factors. Your physician may recommend additional testing such as a comprehensive neuropathy gene panel or whole exome sequencing.
Is this test available with home sample collection?
Yes, DNA Labs India offers free home sample collection for online bookings of the SCN9A Gene Erythermalgia NGS Genetic Test across India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, and hundreds of other cities and towns nationwide.
What treatments are available if the test confirms primary erythermalgia?
If a pathogenic SCN9A mutation is confirmed, your neurologist may recommend sodium channel blockers (such as carbamazepine, lamotrigine, or mexiletine), aspirin, lifestyle modifications to avoid heat triggers, cooling strategies, and elevation of affected limbs. Treatment plans should be individualized under the guidance of a specialist familiar with SCN9A-related disorders.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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