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KIF1A Gene SPG30 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

KIF1A Gene SPG30 NGS Genetic Test

Short Name: KIF1A SPG30 NGS

Also known as: KIF1A Gene Mutation Test, SPG30 Genetic Test, Hereditary Spastic Paraplegia Type 30 Panel

KIF1A Gene SPG30 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 3 to 4 weeks after the sample reaches the laboratory. You will receive an SMS/email notification.. 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

The purpose of this test is to identify pathogenic variants in the KIF1A gene that are associated with hereditary spastic paraplegia type 30 (SPG30). This molecular confirmation supports a differential diagnosis, enables early therapeutic intervention, and provides recurrence risk information for affected families.

Test Code
4529
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally issued 3 to 4 weeks after the sample reaches the laboratory. You will receive an SMS/email notification.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting or special preparation is required. A prior genetic counselling session for pedigree construction is recommended.

Method: Venipuncture or FTA card blood spot

Step 2

Laboratory Analysis

Two to three millilitres of blood drawn in an EDTA vacutainer, or one drop of blood on an FTA card.

Step 3

Report Delivery

You may resume daily activities immediately. The sample will be transported to the laboratory under appropriate conditions.

Timeline: Reports are generally issued 3 to 4 weeks after the sample reaches the laboratory. You will receive an SMS/email notification.

Patient Instructions

1
Before the Test:A pre-test genetic counselling session is included. Please bring prior neurological examination records if available.
2
During the Test:Blood sample collection takes 5-10 minutes. FTA card collection is minimally invasive.
3
After the Test:No restrictions. You will be updated on the progress of your sample and report via email/SMS.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic variants in the KIF1A gene that are associated with hereditary spastic paraplegia type 30 (SPG30). This molecular confirmation supports a differential diagnosis, enables early therapeutic intervention, and provides recurrence risk information for affected families.

How to Prepare

  • Maintain the EDTA tube at 2-8°C after collection
  • For FTA card, allow the blood spot to air dry thoroughly
  • Label the sample clearly with patient name, date, and unique identifier
  • Ensure the sample reaches the laboratory within 72 hours for whole blood

Doctor's Notes

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

"Genetic confirmation is essential for accurate diagnosis and management of KIF1A-associated SPG30. NGS provides a reliable and comprehensive approach to detect pathogenic variants in the KIF1A gene."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml whole blood OR 1 drop on FTA card OR 1-2 µg extracted DNA
ContainerEDTA vacutainer / FTA card / DNA elution tube
Collection MethodVenipuncture or FTA card blood spot

Sample Stability

Whole blood (EDTA): 48-72 hours at 2-8°C
Extracted DNA: 6 months at -20°C or below
FTA card blood spot: 1 year at ambient temperature
Sample Rejection Criteria:
  • Clotted blood
  • Haemolysed sample
  • Insufficient blood volume (<1 ml whole blood)
  • Mismatched or missing patient identification

Understanding Your Results

The molecular diagnosis of SPG30 is established when a pathogenic or likely pathogenic variant in the KIF1A gene is identified. Variant interpretation is performed by a clinical geneticist and aligned with ACMG guidelines.
Positive for a pathogenic variant: Confirmed diagnosis of SPG30.
Positive for a likely pathogenic variant: Likely confirms diagnosis; family studies recommended.
Variant of uncertain significance (VUS): Insufficient evidence to classify; further testing of family members advised.
Negative result: No pathogenic variant detected in the KIF1A gene; other HSP genes may be considered.
⚠️ When to Consult a Doctor:

If you or a family member experience unexplained spasticity, gait difficulties, or tremors, consult a neurologist or clinical geneticist for clinical assessment. A genetic test can provide a definitive diagnosis and help guide management.

Limitations

  • ⚠NGS may not detect large structural variants, repeat expansions, or methylation defects
  • ⚠Variants of uncertain significance may require family segregation analysis
  • ⚠Deep intronic variants may not be detected by this standard NGS panel
  • ⚠Diagnostic yield depends on clinical phenotype and patient selection

Risks & Considerations

  • ●Bruising, pain, or bleeding at the phlebotomy site
  • ●Psychological distress upon receiving predictive or diagnostic results
  • ●Potential genetic privacy concerns (mitigated by confidentiality policies)

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Low sequencing coverage in GC-rich regions
  • ●Contamination from another individual
  • ●Genetic variants in pseudogenes interfering with testing

Compare With Similar Tests

TestKIF1A Gene SPG30 NGS Genetic Test
ComparisonKIF1A Gene SPG30 NGS Genetic Test

Frequently Asked Questions

What is the KIF1A Gene SPG30 NGS Genetic Test?
It is a next-generation sequencing test that analyzes the KIF1A gene to detect mutations associated with hereditary spastic paraplegia type 30 (SPG30). It helps confirm a clinical diagnosis and guide management.
Who should take this test?
Individuals with symptoms such as progressive spasticity, muscle weakness, gait difficulty, tremors, or a family history of SPG30/HSP. It is also recommended for genetic counselling and family planning.
How does a KIF1A mutation cause SPG30?
KIF1A encodes a motor protein essential for neuronal transport. Pathogenic mutations disrupt axonal transport, leading to neurodegeneration and characteristic motor symptoms.
What sample type is required?
The test can be performed on whole blood (2-3 ml in EDTA tube), extracted DNA, or a single blood spot on an FTA card.
How long do reports take?
Reports are delivered within 3 to 4 weeks after the sample reaches the laboratory.
Does DNA Labs India provide raw data files?
Yes, DNA Labs India transparently provides FASTQ, VCF, and BAM files along with the clinical report for every genetic test.
What is the cost of this test?
The test cost is INR 20,000, inclusive of a special discounted price for online bookings.
Is home sample collection available?
Yes, free home sample collection is available in 200+ cities across India for online bookings.
Is fasting required before the sample collection?
No, fasting or special preparation is not required for this genetic test.
Does the cost include genetic counselling?
Yes, the test includes a pre-test genetic counselling session to draw a pedigree chart of family members affected with SPG30.
Can this test be used for prenatal diagnosis?
Prenatal testing of KIF1A is possible in a clinical genetics setting, but it requires prior confirmation of the familial pathogenic variant and appropriate pre-test counselling. This test is typically performed on blood-based samples from symptomatic individuals.
What other genes are tested in the hereditary spastic paraplegia panel?
The HSP NGS panel at DNA Labs India includes multiple genes associated with hereditary spastic paraplegia, including ATL1, SPAST, CYP7B1, SPG7, and KIF1A. The clinical report will indicate the genes analyzed.
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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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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