Skip to main content
DNA Labs India

KIF1A Gene Mental retardation, autosomal dominant type 9 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

KIF1A Gene Mental retardation, autosomal dominant type 9 NGS Genetic Test

Short Name: KIF1A NGS Genetic Test

Also known as: KIF1A Gene Mutation Test, MRD9 Genetic Test, KIF1A Next-Generation Sequencing Test

KIF1A Gene Mental retardation, autosomal dominant type 9 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 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of this NGS genetic test is to identify pathogenic variants in the KIF1A gene that are associated with Mental Retardation, Autosomal Dominant Type 9. Early and accurate molecular confirmation helps in diagnosis, genetic counseling, prognosis, and appropriate management of the disorder.

Test Code
4252
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)
Step 1

Sample Collection

No fasting is required. Patient should carry any previous medical records and known family history.

Method: Venipuncture / Blood spot on FTA card

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist. For FTA card, a single drop of blood is applied.

Step 3

Report Delivery

No special care needed. Patient can resume normal activities immediately.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:No fasting required. A genetic counseling session is recommended to draw a pedigree chart of family members affected with KIF1A-related disorder.
2
During the Test:A blood sample is collected; for FTA card, a drop of blood is placed on the provided card.
3
After the Test:You may receive your report through online portal, email, or WhatsApp. DNA Labs India also provides raw data files (FASTQ, VCF) along with the clinical report.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify pathogenic variants in the KIF1A gene that are associated with Mental Retardation, Autosomal Dominant Type 9. Early and accurate molecular confirmation helps in diagnosis, genetic counseling, prognosis, and appropriate management of the disorder.

How to Prepare

  • Blood sample collected in an EDTA vacutainer
  • FTA card with a single blood spot is acceptable
  • Extracted DNA should be accompanied with an accession number

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Clinical genetics evaluation is recommended to confirm the family history and guide appropriate testing."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA Vacutainer / FTA Card / DNA vial
Collection MethodVenipuncture / Blood spot on FTA card

Sample Stability

Blood at room temperature: 24 hours
Refrigerated: 72 hours
Extracted DNA: 1 week at 2-8°C
FTA card: 6 months at room temperature
Sample Rejection Criteria:
  • Hemolyzed sample
  • Clotted sample
  • Improper labeling
  • Inadequate sample volume

Understanding Your Results

The clinical interpretation of KIF1A gene variants is based on current ACMG guidelines and the reported phenotype.
📊

Positive

Confirms diagnosis and supports autosomal dominant inheritance.

📊

Uncertain

Needs further family segregation studies and clinical correlation.

📊

Negative

Does not rule out a genetic cause; consider broader genetic testing.

⚠️ When to Consult a Doctor:

If the patient has clinical features suggestive of MRD9, or if abnormal results are reported, consult a clinical geneticist or neurologist for further management.

Limitations

  • ⚠Does not detect large genomic rearrangements or trinucleotide repeat expansions
  • ⚠Variant analysis limited to the KIF1A gene; other genetic causes not excluded
  • ⚠Low-level mosaicism may not be detected
  • ⚠Results should be interpreted in the context of clinical findings

Risks & Considerations

  • ●Mild bruising at the puncture site
  • ●Fainting for a few seconds during blood draw
  • ●Infection (rare)

Interfering Factors

  • ●Presence of maternal DNA contamination
  • ●Insufficient sample quantity
  • ●Degraded DNA sample
  • ●Complex structural variants may not be detected by NGS

Frequently Asked Questions

What is the KIF1A gene?
KIF1A is a gene that provides instructions for making a protein called Kinesin Family Member 1A. This protein is crucial for transporting various components inside cells, especially nerve cells, where it helps move vesicles containing neurotransmitters.
What is Mental Retardation, Autosomal Dominant Type 9 (MRD9)?
MRD9 is a rare genetic disorder caused by mutations in the KIF1A gene. It affects brain development and function, leading to intellectual disability, developmental delay, movement problems, and other neurological symptoms.
What are the symptoms of MRD9?
Common symptoms include intellectual disability, delayed speech and language development, poor muscle tone, coordination and movement problems, seizures, vision problems, and abnormal curvature of the spine.
How is MRD9 diagnosed?
Diagnosis involves clinical evaluation, genetic testing to identify mutations in the KIF1A gene, and imaging studies such as MRI. NGS genetic testing is a highly accurate method for detecting such mutations.
What is NGS technology?
Next-Generation Sequencing (NGS) is a high-throughput sequencing technique that can analyze multiple genes or gene regions simultaneously. It is sensitive and efficient for identifying disease-causing variants.
What is the cost of the KIF1A NGS Genetic Test at DNA Labs India?
The test costs INR 20000 at DNA Labs India. This includes the genetic test, clinical report, and raw data files such as FASTQ and VCF.
What sample types are accepted for this test?
The test accepts blood, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get the report?
The report is generally delivered within 3 to 4 weeks after the sample is received at the laboratory.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
Will I receive raw data along with the clinical report?
Yes, DNA Labs India is transparent and provides raw data files (FASTQ, VCF) along with the conclusive clinical report for this test.
Do I need genetic counseling before the test?
Yes, a genetic counseling session is performed to draw a pedigree chart and understand the family history of affected members. This is part of the test process.
What does a positive test result mean?
A positive result indicates a pathogenic variant in the KIF1A gene, confirming the clinical diagnosis of MRD9. It can help guide treatment, management, and genetic counseling for the family.
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.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
For Hospitals & Clinics

Reference 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.

LIMS Integration

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.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.