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KIF5C Gene Neurodevelopmental malformation and microcephaly NGS Genetic Test

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KIF5C Gene Neurodevelopmental malformation and microcephaly NGS Genetic Test

Short Name: KIF5C NGS Test

Also known as: KIF5C Gene Mutation Analysis, Microcephaly NGS Panel, KIF5C Sequencing

KIF5C Gene Neurodevelopmental malformation and microcephaly NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger confirmation for detected variants on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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 KIF5C gene that may be associated with neurodevelopmental malformation and microcephaly, thereby confirming the clinical diagnosis, guiding patient management, and facilitating informed family counselling.

Test Code
4407
CPT Code
81407
ICD Code
Q02
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger confirmation for detected variants
Step 1

Sample Collection

No special preparation is required. Fasting is not needed. If desired, a genetic counselling session can be scheduled to draw a pedigree chart of affected family members.

Method: Venipuncture or FTA card blood spot

Step 2

Laboratory Analysis

A blood sample will be collected by a qualified phlebotomist. Alternatively, a few drops of blood can be placed on an FTA card. The process is quick and minimally invasive.

Step 3

Report Delivery

No post-collection restrictions. You can resume normal activities immediately.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:No special preparation is required. Fasting is not needed. Your doctor may recommend a genetic counseling session before the test to discuss the implications of testing.
2
During the Test:A blood sample is drawn by a trained phlebotomist. If using an FTA card, a simple finger-prick or heel-prick is sufficient.
3
After the Test:You can return to normal activities. Results will be shared with your ordering physician, and a genetic counselor may contact you for result interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic variants in the KIF5C gene that may be associated with neurodevelopmental malformation and microcephaly, thereby confirming the clinical diagnosis, guiding patient management, and facilitating informed family counselling.

How to Prepare

  • Please verify patient identity and lab requisition form before collection.
  • Use a sterile anticoagulant tube for blood collection if blood is sent.
  • For FTA card, apply blood drops to the circled area and let it air dry completely.
  • Label the sample with patient name, date of birth, and collection date.

Doctor's Notes

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

"KIF5C genetic testing is essential for accurate diagnosis and personalised management of neurodevelopmental malformation and microcephaly."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2 mL blood (if blood sample)
ContainerEDTA vial or FTA card
Collection MethodVenipuncture or FTA card blood spot

Sample Stability

Blood at 2-8°C: 72 hours
Extracted DNA at -20°C: 6 months
FTA card at room temperature: 6 months
Sample Rejection Criteria:
  • Clotted or haemolysed blood sample
  • Sample received in improper container
  • Incomplete or incorrect labelling
  • Sample not received within stability period

Understanding Your Results

Interpretation of KIF5C gene variants is performed by a qualified clinical geneticist. Results are reported in the context of the patient's clinical presentation and family history.
Pathogenic variant: Consistent with a diagnosis of KIF5C-associated neurodevelopmental malformation and microcephaly.
Likely pathogenic variant: Probable disease-causing; further family testing may be recommended for confirmation.
Variant of Unknown Significance (VUS): Insufficient evidence for a definitive diagnosis; additional family studies and clinical correlation are advised.
No pathogenic variant detected: No clinically significant variants identified in the KIF5C gene; other genetic causes may need to be explored.
⚠️ When to Consult a Doctor:

If you or your child has signs of microcephaly, developmental delay, seizures, or abnormal brain MRI findings, consult a neurologist or clinical geneticist for a comprehensive evaluation and genetic testing discussion.

Limitations

  • ⚠This test targets only the KIF5C gene and may not detect mutations in other genes associated with microcephaly.
  • ⚠Large deletions or duplications involving KIF5C may not be detected unless additional analysis is performed.
  • ⚠Variants of unknown significance (VUS) may require follow-up family segregation studies.
  • ⚠A negative result does not exclude a genetic cause; other gene panels may be considered based on clinical indications.

Risks & Considerations

  • ●Minor discomfort or bruising at the blood collection site
  • ●Very rare risk of infection or excessive bleeding

Interfering Factors

  • ●Maternal cell contamination of the sample
  • ●Improper storage or transport conditions
  • ●Low DNA yield or degraded DNA
  • ●Variants outside the tested regions
  • ●Incorrect sample labelling

Compare With Similar Tests

TestKIF5C Gene Neurodevelopmental malformation and microcephaly NGS Genetic Test
ComparisonKIF5C Gene Neurodevelopmental malformation and microcephaly NGS Genetic Test

Frequently Asked Questions

What is the cost of the KIF5C NGS genetic test at DNA Labs India?
The cost of the KIF5C NGS genetic test is INR 20000, which includes free home sample collection.
What kind of sample is needed for the KIF5C NGS genetic test?
The test can be performed on blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How much time will it take to get the results?
Results are typically available within 3 to 4 weeks from the date of sample receipt.
What is the role of the KIF5C gene in the body?
The KIF5C gene provides instructions for producing a motor protein important for neuronal development and intracellular transport. Mutations can cause neurodevelopmental malformations and microcephaly.
Why is NGS technology used for this test?
NGS technology allows accurate, high-throughput sequencing of target genes, providing a detailed and reliable analysis of the KIF5C gene in a cost-effective manner.
Is home sample collection available?
Yes, DNA Labs India provides free home sample collection in over 150 cities across India for this test.
Who should consider taking this KIF5C genetic test?
Individuals with clinical features of microcephaly, neurodevelopmental delay, seizures, or family history of KIF5C-related conditions should consider this test.
Can this test be performed during pregnancy?
Prenatal testing is possible but requires careful genetic counselling and is usually performed only if a specific KIF5C variant is known in the family. Please consult your clinician.
What does a negative or normal result mean?
A negative result means no pathogenic variants were detected in the KIF5C gene. This does not completely exclude a genetic cause; additional genes or conditions may still be considered.
Will insurance cover the cost of this test?
Currently, this test is generally not covered by government insurance schemes. Some private insurers may provide partial coverage depending on the policy; it is advisable to check with your insurer.
Are my genetic test results confidential?
Yes, DNA Labs India follows strict patient confidentiality and data protection protocols. Your results are shared only with your treating physician and you.
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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