KIF1C Gene Spastic ataxia type 2, autosomal recessive NGS Genetic Test
Short Name: KIF1C Spastic Ataxia NGS
Also known as: KIF1C-Related Spastic Ataxia, Autosomal Recessive Spastic Ataxia Type 2, Spastic Ataxia 2
KIF1C Gene Spastic ataxia type 2, autosomal recessive 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 Your report will be ready within 3 to 4 weeks from the date the laboratory receives the sample. You will be notified via email/WhatsApp when the report is available.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this NGS genetic test is to identify pathogenic mutations in the KIF1C gene, confirming or excluding a diagnosis of autosomal recessive spastic ataxia type 2. It is also used for carrier testing of at-risk family members, prenatal diagnosis support, and providing accurate recurrence-risk estimates for couples with family history of the disease.
- Test Code
- 4507
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Your report will be ready within 3 to 4 weeks from the date the laboratory receives the sample. You will be notified via email/WhatsApp when the report is available.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation or fasting is required. Please bring any relevant clinical records, imaging, and previous genetic test reports. Genetic counseling is recommended before testing.
Method: Blood draw or FTA card spot
Laboratory Analysis
A standard venipuncture will be performed by a trained phlebotomist. For FTA card sample, a few drops of blood are spotted onto the card and allowed to dry.
Report Delivery
No restriction. You may resume your regular activities. Ensure the sample is transported to the laboratory as per instructions.
Timeline: Your report will be ready within 3 to 4 weeks from the date the laboratory receives the sample. You will be notified via email/WhatsApp when the report is available.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the KIF1C gene, confirming or excluding a diagnosis of autosomal recessive spastic ataxia type 2. It is also used for carrier testing of at-risk family members, prenatal diagnosis support, and providing accurate recurrence-risk estimates for couples with family history of the disease.
How to Prepare
- Provide correct patient identification and label the sample tube/card.
- Fill the test request form with clinical history and pedigree information.
- Sign the informed consent for genetic testing.
- For FTA card, let the blood spot dry completely before sealing the pouch.
- Ship samples in a leak-proof container at room temperature.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"NGS-based genetic testing for the KIF1C gene offers a definitive diagnosis for families affected by progressive spastic ataxia. Early molecular confirmation is essential for appropriate medical management, genetic counseling, and reproductive decision-making."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood sample
- Insufficient volume
- Improper labeling or suspected sample mix-up
- FTA card not dried before packaging
- Sample exposed to extreme temperatures
Understanding Your Results
Positive
A pathogenic or likely pathogenic variant detected in the KIF1C gene in a homozygous or compound heterozygous state is consistent with a diagnosis of autosomal recessive spastic ataxia type 2.
Actions: Genetic counseling, symptomatic treatment, family cascade testing, and carrier screening for at-risk relatives.
Negative
No clinically significant variant was detected. The diagnosis of KIF1C-related spastic ataxia is unlikely.
Actions: Clinical correlation and consideration of other hereditary ataxia panels or chromosome microarray.
Variant of Uncertain Significance (VUS)
A variant of unknown clinical significance was found. Its association with the disorder is uncertain.
Actions: Additional family segregation studies and functional analysis may be recommended. Genetic counseling is advised.
If you have persistent symptoms such as unsteady walking, stiffness in the legs, muscle weakness, or a family member with a confirmed genetic diagnosis of spastic ataxia, please consult a neurologist or genetic specialist to evaluate the need for this test.
Risks & Considerations
- ●Temporary pain or bruising at the puncture site
- ●Low risk of infection (rare)
- ●Dizziness or fainting during blood draw
Compare With Similar Tests
| Test | KIF1C Gene Spastic ataxia type 2, autosomal recessive NGS Genetic Test | FXN Gene Friedreich Ataxia NGS Test | SPAST Gene Spastic Paraplegia 4 NGS Test | ATXN1 Gene Spinocerebellar Ataxia Type 1 NGS Test | SETX Gene Ataxia Oculomotor Apraxia Type 2 NGS Test |
|---|---|---|---|---|---|
| Comparison | KIF1C Gene Spastic ataxia type 2, autosomal recessive NGS Genetic Test | Friedreich ataxia is caused by GAA repeat expansions in the FXN gene and presents with sensory ataxia, absent reflexes, and cardiomyopathy. The KIF1C test is specific for spastic ataxia and the NGS method does not typically assess repeat expansions. | SPAST-related hereditary spastic paraplegia is a pure spastic paraplegia without significant cerebellar ataxia. KIF1C-related disease combines ataxia and spasticity, making this test more appropriate for patients with overlapping features. | SCA1 is a dominant ataxia caused by CAG repeat expansion. KIF1C spastic ataxia is recessive and caused by point mutations. The NGS test for KIF1C detects sequence variants but not repeat expansions, so these tests are complementary. | SETX disorders cause ataxia with oculomotor apraxia and are inherited in an autosomal recessive pattern. The phenotype and gene are different, and the KIF1C test helps differentiate these conditions based on clinical history. |
Frequently Asked Questions
What is the KIF1C gene spastic ataxia type 2?
How is this condition inherited?
What are the common symptoms?
What does the NGS genetic test for KIF1C detect?
Is fasting required before this test?
What type of sample is accepted?
How much does the test cost at DNA Labs India?
How long will it take to get the report?
Will I receive the raw data files?
What does a positive result mean for family members?
Is home sample collection available?
Can insurance be claimed for this test?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference Laboratory Services
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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
Book Your Test
Enter your details and we'll connect you within 15 minutes.