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KIF11 Gene Microcephaly with or without chorioretinopathy, Lymphedema, or Mental retardation, MCLMR NGS Genetic Test

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KIF11 Gene Microcephaly with or without chorioretinopathy, Lymphedema, or Mental retardation, MCLMR NGS Genetic Test

Short Name: KIF11 MCLMR NGS

Also known as: KIF11-related microcephaly test, MCLMR genetic test, Microcephaly NGS panel

KIF11 Gene Microcephaly with or without chorioretinopathy, Lymphedema, or Mental retardation, MCLMR 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 typically delivered within 3-4 weeks after sample receipt.. Free home collection in 300+ cities across India.

NGS Gene Panel🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to confirm a clinical diagnosis of MCLMR, identify the underlying genetic cause, and enable appropriate medical management. It also helps in genetic counseling for affected families and assessment of recurrence risk.

Test Code
5852
CPT Code
81407
ICD Code
Q02
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically delivered within 3-4 weeks after sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. However, a genetic counseling session is recommended before the test to discuss implications.

Method: Venipuncture or Finger-prick

Step 2

Laboratory Analysis

Blood sample is collected via venipuncture or a finger-prick for FTA card. The procedure is quick and minimally invasive.

Step 3

Report Delivery

No specific aftercare is needed. Patients can resume normal activities immediately.

Timeline: Reports are typically delivered within 3-4 weeks after sample receipt.

Patient Instructions

1
Before the Test:No fasting required. A genetic counseling session is recommended to discuss the purpose, benefits, and limitations of the test.
2
During the Test:The sample collection takes about 5-10 minutes. You may feel a slight prick during blood draw.
3
After the Test:You can resume normal activities. Results will be available in 3-4 weeks and will be communicated via your preferred method.

About This Test

Who Should Get This Test

The purpose of this test is to confirm a clinical diagnosis of MCLMR, identify the underlying genetic cause, and enable appropriate medical management. It also helps in genetic counseling for affected families and assessment of recurrence risk.

How to Prepare

  • Use EDTA tube for blood collection
  • For FTA card, apply one drop of blood onto the designated circle
  • Label the sample with patient ID and date
  • Store at room temperature (15-30°C) until shipment

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for KIF11 mutations is crucial for accurate diagnosis and management of MCLMR. Early identification can guide surveillance for vision and lymphatic complications."

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 blood or 1 drop on FTA card
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture or Finger-prick

Sample Stability

Blood: 7 days at 2-8°C
Extracted DNA: 1 year at -20°C
FTA card: 6 months at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improper labeling
  • Sample received after prolonged transit without proper temperature control

Understanding Your Results

The test report will indicate whether a pathogenic or likely pathogenic variant in the KIF11 gene was identified. If a variant is found, its clinical significance will be explained.
📊

Pathogenic variant detected

Confirms diagnosis of KIF11-related MCLMR. Genetic counseling and family screening recommended.

📊

Likely pathogenic variant detected

Highly suggestive of disease; further segregation analysis may be advised.

📊

Variant of uncertain significance (VUS)

Insufficient evidence to determine pathogenicity. Additional testing of family members may help.

📊

No pathogenic variant detected

Does not rule out MCLMR; other genetic or non-genetic causes should be considered.

⚠️ When to Consult a Doctor:

Consult a clinical geneticist or pediatric neurologist if the test result is positive or if you have concerns about microcephaly, developmental delay, or vision problems.

Limitations

  • ⚠This test does not detect all possible mutations in non-coding regions or large structural rearrangements beyond the scope of NGS.
  • ⚠Variants of uncertain significance (VUS) may be reported; further familial testing may be required.
  • ⚠Negative result does not exclude a genetic cause; other genes may be involved.

Risks & Considerations

  • ●Minimal risk of bruising or infection at the blood draw site
  • ●Psychological impact of receiving genetic results
  • ●Potential for uncertain results (VUS)

Interfering Factors

  • ●Contamination of sample with foreign DNA
  • ●Insufficient DNA quantity or quality
  • ●Presence of maternal cell contamination in prenatal samples
  • ●Recent blood transfusion (within 2 weeks) may dilute nucleated cells

Compare With Similar Tests

TestKIF11 Gene Microcephaly with or without chorioretinopathy, Lymphedema, or Mental retardation, MCLMR NGS Genetic TestChromosomal Microarray (CMA)Whole Exome Sequencing (WES)Sanger Sequencing
ComparisonKIF11 Gene Microcephaly with or without chorioretinopathy, Lymphedema, or Mental retardation, MCLMR NGS Genetic TestCMA detects copy number variations across the genome, but does not detect single nucleotide variants in KIF11. NGS is more suitable for point mutations.WES covers all coding regions, but is more expensive and may have longer turnaround time. Targeted KIF11 testing is cost-effective for suspected MCLMR.Sanger is used for confirmation of specific variants, but is not efficient for full gene analysis compared to NGS.

Frequently Asked Questions

What is the KIF11 gene?
The KIF11 gene provides instructions for making a protein called kinesin-5, which is essential for cell division. Mutations in this gene can lead to microcephaly and other developmental issues.
What conditions are associated with KIF11 mutations?
Mutations in KIF11 cause microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability (MCLMR). Symptoms may include small head size, vision problems, swelling of limbs, and learning difficulties.
How is the KIF11 genetic test performed?
The test uses next-generation sequencing (NGS) to analyze the KIF11 gene from a blood or saliva sample. The sample is sent to the lab, and results are typically available in 3-4 weeks.
What is the cost of the KIF11 MCLMR NGS test in India?
The test costs INR 20,000 at DNA Labs India, which includes home sample collection and genetic counseling.
Is fasting required before the test?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection.
What does a positive result mean?
A positive result indicates the presence of a pathogenic variant in the KIF11 gene, confirming the diagnosis of MCLMR. Genetic counseling is recommended to discuss implications.
Can this test be done on children?
Yes, the test can be performed on individuals of any age, including infants and children, as long as a blood or saliva sample can be obtained.
How long does it take to get the report?
The turnaround time is typically 3-4 weeks from the date the sample is received by the laboratory.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in over 200 cities across India.
What is the difference between NGS and Sanger sequencing?
NGS can analyze multiple genes simultaneously and is more efficient for large genes like KIF11. Sanger sequencing is used to confirm specific variants but is less comprehensive.
Will insurance cover this test?
Coverage varies by insurance provider. It is recommended to check with your insurance company. DNA Labs India does not directly bill insurance, but we provide necessary documentation for reimbursement.
What should I do if the result is negative?
A negative result does not rule out MCLMR. Your doctor may recommend additional genetic testing or evaluation for other causes of microcephaly.
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

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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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✓ 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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