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DNA Labs India

KIF2A Gene Neurodevelopmental malformation and microcephaly NGS Genetic Test

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KIF2A Gene Neurodevelopmental malformation and microcephaly NGS Genetic Test

Short Name: KIF2A NGS Genetic Test

Also known as: KIF2A Gene Mutation Test, KIF2A Next-Generation Sequencing Test

KIF2A Gene Neurodevelopmental malformation and microcephaly 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 delivered in 3 to 4 weeks after sample receipt.. 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 pathogenic variants in the KIF2A gene associated with neurodevelopmental malformations and microcephaly using NGS technology.

Test Code
4404
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are delivered in 3 to 4 weeks after sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. However, genetic counseling is recommended to discuss the purposes and possible outcomes.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

A small amount of blood will be collected; it takes less than 1 minute.

Step 3

Report Delivery

No special post-test restrictions; you can resume normal activity.

Timeline: Reports are delivered in 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:No fasting is required. Genetic counseling is recommended beforehand.
2
During the Test:A blood sample is drawn using a sterile needle.
3
After the Test:No special care is needed. You can resume normal activities.

About This Test

Who Should Get This Test

To detect pathogenic variants in the KIF2A gene associated with neurodevelopmental malformations and microcephaly using NGS technology.

How to Prepare

  • Clean the puncture site with an alcohol swab before collection
  • For FTA cards, ensure the card is air-dried after blood spot
  • Transport the sample in leak-proof bags

Doctor's Notes

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

"Patients with a child diagnosed with microcephaly and neurodevelopmental delays should consider genetic testing to confirm the underlying cause and receive appropriate genetic counseling."

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 one DNA spot
ContainerEDTA tube / FTA card / sterile DNA tube
Collection MethodVenipuncture or finger prick

Sample Stability

Whole blood at room temperature
FTA card spot
Extracted DNA
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Mismatched label or missing form

Understanding Your Results

KIF2A gene mutations can lead to abnormal neuronal migration and cortical development. This NGS test helps identify a molecular cause in patients with microcephaly and neurodevelopmental malformations.
📊

Negative

No pathogenic mutations found in KIF2A.

📊

Positive

A disease-causing mutation was found; this explains the clinical presentation.

📊

Variant of uncertain significance

A genetic change with unclear significance; may require parental segregation studies.

⚠️ When to Consult a Doctor:

If your child has a head circumference below the third centile, has seizures, delayed milestones, or if any immediate family member has a confirmed KIF2A variant.

Limitations

  • ⚠This test detects pathogenic variants only in the KIF2A gene; it does not rule out other genetic causes.
  • ⚠Large deletions/duplications may not be detected by NGS sequencing alone.

Risks & Considerations

  • ●There is a minor risk of bruising, bleeding, or infection at the blood draw site.
  • ●No significant risks are associated with the test itself.

Interfering Factors

  • ●Insufficient DNA quantity
  • ●Contamination with another person's DNA
  • ●Failure of PCR amplification

Frequently Asked Questions

What is microcephaly?
Microcephaly is a medical condition in which the baby's head is significantly smaller than expected for the age and sex. It can be present at birth or develop during the first few years.
How is KIF2A gene related to neurodevelopmental disorders?
The KIF2A gene encodes a motor protein that is critical for proper neuron migration and division. Pathogenic mutations in KIF2A disrupt these processes, leading to abnormal brain structure, intellectual disability, seizures, and microcephaly.
What is NGS genetic testing?
Next-generation sequencing is a high-throughput DNA sequencing technology that can analyze multiple genes simultaneously. It detects mutations in the KIF2A gene with high accuracy.
Who should undergo this KIF2A NGS genetic test?
The test is recommended for individuals with clinical features of microcephaly, neurodevelopmental malformations, motor or speech delay, epilepsy, or a family history of KIF2A-related disorders.
What sample is required for the test?
A small amount of peripheral blood (2-3 ml), a spotted blood sample on FTA card, or extracted DNA is required.
Is fasting required before the test?
No, the test does not require fasting.
What is the cost of the KIF2A gene NGS test?
The test costs Rs 20000.0 (INR 20,000) at DNA Labs India.
How long will it take to get the report?
The turnaround time is 3 to 4 weeks from the day the sample is received.
Can I get the sample collected at home?
Yes, DNA Labs India offers free home sample collection in many cities across India.
What does a positive test result mean?
A positive result indicates a pathogenic variant was identified in the KIF2A gene, which can confirm the molecular diagnosis of the condition.
What does a negative result mean?
A negative result suggests no pathogenic variants were found in the KIF2A gene, but it does not completely exclude a genetic cause, as other genes may be involved.
Is genetic counseling important?
Yes, genetic counselling is essential before and after the test to help you understand the implications, inheritance pattern, and management of the condition.
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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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.

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