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SPTLC2 Gene Neuropathy, hereditary sensory and autonomic type 1C NGS Genetic Test

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SPTLC2 Gene Neuropathy, hereditary sensory and autonomic type 1C NGS Genetic Test

Short Name: SPTLC2 HSAN1C NGS

Also known as: HSAN1C Genetic Test, SPTLC2 Gene Mutation Testing, Hereditary Sensory Neuropathy 1C NGS

SPTLC2 Gene Neuropathy, hereditary sensory and autonomic type 1C NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are generally issued within 3 to 4 weeks from sample receipt. Expected reporting may be delayed in case of repeat testing or complex variant interpretation.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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

To detect sequence variants in the SPTLC2 gene using NGS and help confirm or exclude a diagnosis of hereditary sensory and autonomic neuropathy type 1C, enabling accurate genetic counselling and management.

Test Code
4425
ICD Code
G60.8
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally issued within 3 to 4 weeks from sample receipt. Expected reporting may be delayed in case of repeat testing or complex variant interpretation.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A genetic counselling session is recommended before the test to draw a three-generation pedigree and clarify the implications of genetic testing.

Method: Venipuncture or dried blood spot on FTA card

Step 2

Laboratory Analysis

A blood sample may be collected by venipuncture into an EDTA tube, or a dried blood spot can be collected on an FTA card using a finger-prick. If extracted DNA is sent, ensure it meets laboratory quality requirements.

Step 3

Report Delivery

No specific precautions are needed. The sample will be transported to DNA Labs India for processing and the report will be released in 3 to 4 weeks.

Timeline: Reports are generally issued within 3 to 4 weeks from sample receipt. Expected reporting may be delayed in case of repeat testing or complex variant interpretation.

Patient Instructions

1
Before the Test:No special dietary preparation required. Genetic counselling is recommended before the test to explain possible outcomes, limitations and benefits of testing.
2
During the Test:The sample collection takes only a few minutes. For blood sample, venous blood is collected aseptically. For FTA card, a small finger-prick is needed.
3
After the Test:You can resume normal activities immediately. The specimen is sent to the laboratory for NGS analysis.

About This Test

Who Should Get This Test

To detect sequence variants in the SPTLC2 gene using NGS and help confirm or exclude a diagnosis of hereditary sensory and autonomic neuropathy type 1C, enabling accurate genetic counselling and management.

How to Prepare

  • Use EDTA tube or a sterile tube for extracted DNA
  • Label sample with patient name, ID and date of collection
  • For FTA card, apply a single drop of blood to each circle and air dry
  • Store at room temperature if samples reach laboratory within 24 hours
  • Avoid repeated freezing and thawing of extracted DNA

Doctor's Notes

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

"Genetic counselling and a three-generation pedigree is essential before and after SPTLC2 testing to help families understand inheritance and reproductive choices."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory requirement
ContainerEDTA tube (blood), sterile vial (extracted DNA), FTA card
Collection MethodVenipuncture or dried blood spot on FTA card

Sample Stability

Whole blood in EDTA at 15-25°C: up to 24 hours
Whole blood in EDTA at 2-8°C: up to 72 hours
Extracted DNA at -20°C or lower: stable for long-term storage
FTA card at room temperature: stable for months
Sample Rejection Criteria:
  • Heavily haemolysed or clotted blood sample
  • Insufficient sample quantity
  • Mismatched patient identification on request form and sample
  • Sample received in unsuitable container or broken tube

Understanding Your Results

The SPTLC2 NGS report will classify variants according to ACMG guidelines. A negative result decreases the likelihood of SPTLC2-related HSAN1C but does not completely exclude hereditary neuropathy; VUS and positive results need further clinical and family evaluation.
Negative result: No pathogenic SPTLC2 variant identified; clinical correlation needed.
Heterozygous pathogenic/likely pathogenic variant detected: supports a molecular diagnosis of autosomal dominant HSAN1C.
Variant of uncertain significance: further testing of affected and unaffected family members may be needed.
Positive result: patient should receive genetic counselling for management and family testing.
Pre-symptomatic positive result in at-risk individual: indicates risk of developing HSAN1C; require monitoring and follow-up.
⚠️ When to Consult a Doctor:

Consult a clinical geneticist or neurologist if you have an unexplained progressive neuropathy, a positive family history of HSAN, or if you are a known SPTLC2 mutation carrier and are planning a family.

Limitations

  • ⚠NGS may not detect all types of variants such as large structural rearrangements or repeat expansions
  • ⚠Regulatory regions or deeply intronic variants may not be covered completely
  • ⚠Variants of uncertain significance may be identified and require further family testing
  • ⚠Negative or VUS results do not exclude all hereditary neuropathies
  • ⚠Test report should be interpreted by a qualified geneticist in the context of clinical findings

Risks & Considerations

  • ●Minimal discomfort at the time of blood collection
  • ●Small bruise or transient pain at the puncture site
  • ●Very rare local infection
  • ●No direct medical risk from the genetic test itself

Interfering Factors

  • ●Poor DNA extraction or degradation
  • ●Clotted or haemolysed blood sample
  • ●Presence of donor DNA after allogeneic bone marrow transplant
  • ●Sample contamination during collection or transport

Compare With Similar Tests

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Frequently Asked Questions

What is SPTLC2 gene neuropathy?
SPTLC2 gene neuropathy, also called hereditary sensory and autonomic neuropathy type 1C, is a rare genetic disorder caused by mutations in the SPTLC2 gene that affect sphingolipid production and lead to nerve damage.
Which gene is analysed in this test?
The test analyses the SPTLC2 gene using next-generation sequencing, along with other genes associated with hereditary sensory and autonomic neuropathies as per the panel.
What is the cost of the SPTLC2 HSAN1C NGS genetic test at DNA Labs India?
The test costs INR 20,000. This includes the NGS analysis, clinical report, genetic counselling session, raw data, FASTQ and VCF files where requested.
What sample is needed for this NGS genetic test?
The acceptable samples are whole blood in EDTA, extracted DNA, or a drop of blood on an FTA card.
Is fasting required before the SPTLC2 NGS test?
No, fasting is not required for this genetic test. However, a pre-test genetic counselling session is strongly recommended.
What is the turnaround time for this test?
The report is usually delivered within 3 to 4 weeks after the sample is received in the laboratory.
Will I receive raw data, FASTQ or VCF files?
Yes, DNA Labs India provides raw data, FASTQ and VCF files along with the clinical test report for transparency and future clinical interpretation.
Why is genetic counselling recommended with this test?
Genetic counselling helps patients understand the inheritance pattern, disease risk, limitations of testing and reproductive options before choosing to have the test.
Can this test detect other hereditary neuropathies?
The NGS panel is designed to analyse multiple genes associated with hereditary sensory and autonomic neuropathies, in addition to SPTLC2.
How should the results of the SPTLC2 NGS test be interpreted?
Results are interpreted by a clinical geneticist using ACMG guidelines. A negative result does not exclude all hereditary neuropathies and a pathogenic variant confirms the molecular diagnosis in the appropriate clinical context.
Is the SPTLC2 NGS test covered by insurance or government schemes?
Coverage depends on the policy and scheme. It is not typically covered under standard packages; patients may check with their insurer for genetic testing reimbursement.
How can I book the SPTLC2 HSAN1C NGS genetic test?
You can book online on the DNA Labs India website. Free home sample collection is offered for online bookings across major cities in India.
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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