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KIF1A Gene HSN2C NGS Genetic Test

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KIF1A Gene HSN2C NGS Genetic Test

Short Name: KIF1A HSN2C NGS

Also known as: KIF1A Gene Mutation Test, HSN2C Genetic Test, Hereditary Sensory Neuropathy Type IIC NGS Panel, KIF1A Next Generation Sequencing Test

KIF1A Gene HSN2C 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 usually released within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this NGS genetic test is to detect clinically significant variants in the KIF1A gene that are known to cause hereditary sensory neuropathy type IIC. It is used to confirm a suspected diagnosis, aid in differential diagnosis, and provide clarity for genetic counselling and family planning.

Test Code
4133
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are usually released within 3 to 4 weeks after sample receipt.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Please carry previous prescriptions, imaging reports, and family history details. A genetic counselling session to draw a pedigree chart should be completed before the test.

Method: Venipuncture / FTA card spot / extracted DNA submission

Step 2

Laboratory Analysis

A trained phlebotomist will collect a small amount of blood from the arm or a drop of blood on an FTA card. The procedure takes only a few minutes.

Step 3

Report Delivery

There are no restrictions after sample collection. You can resume normal activities immediately.

Timeline: Reports are usually released within 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:No special preparation is required. A genetic counselling session is recommended and clinical history of the patient is required before ordering the test.
2
During the Test:A small blood sample is collected from a vein by an experienced phlebotomist. If an FTA card is used, a drop of blood is applied to the card.
3
After the Test:You may resume normal activities immediately. No special recovery is needed.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect clinically significant variants in the KIF1A gene that are known to cause hereditary sensory neuropathy type IIC. It is used to confirm a suspected diagnosis, aid in differential diagnosis, and provide clarity for genetic counselling and family planning.

How to Prepare

  • Appointment confirmation is required for home sample collection
  • Blood sample should be collected in an EDTA vacutainer for blood-based testing
  • If using an FTA card, apply only one drop of blood to the marked circle
  • Patient name, date of birth, and identity must be verified before collection
  • Do not submit samples for multiple patients using the same form

Doctor's Notes

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

"Genetic counselling and accurate family history are essential before ordering a KIF1A NGS test. In hereditary neuropathies, the choice of gene panel must be guided by clinical presentation and neurological evaluation."

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 vacutainer / DNA transport tube / FTA card
Collection MethodVenipuncture / FTA card spot / extracted DNA submission

Sample Stability

Whole blood in EDTA: store at 2-8°C if DNA isolation is delayed
FTA card: stable at room temperature for several weeks
Extracted DNA: stable at -20°C or below until analysis
Sample Rejection Criteria:
  • Clotted or haemolyzed blood sample
  • Insufficient DNA quantity or quality
  • Missing or incorrect patient identification
  • Use of improper anticoagulant container
  • Improperly stored or expired FTA card

Understanding Your Results

The NGS test identifies sequence variants in the KIF1A gene. Results should always be evaluated in the context of clinical history, family history, and a neurologist's assessment.
📊

Pathogenic variant detected in KIF1A

Confirms the molecular diagnosis of HSN2C; post-test genetic counselling is recommended.

📊

Variant of uncertain significance detected

Cannot confirm or exclude HSN2C; familial segregation analysis may be helpful.

📊

No pathogenic variant detected

HSN2C is less likely but other hereditary neuropathies cannot be ruled out; clinical correlation is required.

⚠️ When to Consult a Doctor:

Consult your referring doctor or genetic specialist if you have symptoms of sensory neuropathy, if HSN2C is suspected, or after receiving results to discuss management and family implications.

Limitations

  • Standard NGS analysis may not detect all large structural rearrangements, deep intronic variants, or repeat expansions
  • A variant of uncertain significance does not always indicate disease
  • A negative result does not completely exclude all hereditary sensory neuropathies
  • Results must be interpreted with family history and clinical findings
  • Molecular genetic testing does not predict disease severity or progression

Risks & Considerations

  • Small risk of bruising, bleeding, or infection at the blood collection site
  • Venipuncture may cause transient discomfort
  • Genetic results may have meaningful implications for family members and should be discussed with a healthcare provider

Interfering Factors

  • Poor DNA quality or degradation
  • Sample mix-up or mislabelling
  • Low NGS coverage across certain KIF1A exons
  • Contamination during sample collection or processing
  • Incomplete clinical information for variant interpretation

Compare With Similar Tests

TestKIF1A Gene HSN2C NGS Genetic TestKIF1A Gene HSN2C NGS Genetic TestHereditary Neuropathy NGS PanelWhole Exome Sequencing
ComparisonKIF1A Gene HSN2C NGS Genetic Test

Frequently Asked Questions

What is the cost of the KIF1A Gene HSN2C NGS Genetic Test at DNA Labs India?
The test costs Rs 20000.0, and free home sample collection is available for online bookings across India.
What is the KIF1A Gene HSN2C NGS Genetic Test used for?
It is used to detect mutations in the KIF1A gene associated with hereditary sensory neuropathy type IIC, a rare progressive neurological disorder.
What are the symptoms of HSN2C?
Symptoms include numbness or tingling in the hands and feet, loss of sensation in the limbs, muscle weakness, limb pain, and difficulty walking.
What type of sample is required for this test?
Blood or extracted DNA or one drop of blood on an FTA card is required. Fasting is not needed.
How long does it take to get the test report?
Reports are available in 3 to 4 weeks after the sample is received at the laboratory.
Will I receive raw data, FASTQ, and VCF files with the report?
Yes, DNA Labs India shares raw data, FASTQ, and VCF files along with the conclusive clinical report.
Is genetic counselling required before this test?
A genetic counselling session is recommended to draw a family pedigree and document the patient's clinical history before testing.
Does this test require fasting?
No, fasting is not required for this genetic test.
Who should take this test?
Individuals with symptoms of hereditary sensory neuropathy, a family history of HSN2C, or those referred by a neurologist for molecular evaluation should consider this test.
Can this test be used as a screening test for everyone?
No. It is a diagnostic genetic test and should be ordered based on clinical history, symptoms, or family background with appropriate counselling.
What does a negative KIF1A test result mean?
A negative result indicates no pathogenic variant was detected in the tested regions of KIF1A; however, it does not exclude all causes of hereditary sensory neuropathy.
Is at-home sample collection available for this test?
Yes, free home sample collection is available for online bookings in multiple cities across 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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