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KNL1 Gene Microcephaly, autosomal recessive type 4 NGS Genetic Test

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KNL1 Gene Microcephaly, autosomal recessive type 4 NGS Genetic Test

Short Name: KNL1 Microcephaly NGS Test

Also known as: KNL1-related microcephaly, Autosomal recessive microcephaly type 4, MCPH4

KNL1 Gene Microcephaly, autosomal recessive type 4 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 TestPediatric🏠 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 the KNL1 Gene Microcephaly NGS Genetic Test is to confirm a diagnosis of autosomal recessive type 4 microcephaly by detecting mutations in the KNL1 gene. This helps in understanding the genetic basis of the condition, guiding treatment plans, and providing information for genetic counseling and family planning.

Test Code
2763
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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with KNL1 gene microcephaly.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card by a trained phlebotomist.

Step 3

Report Delivery

Sample is processed and analyzed in the lab. Results are available in 3-4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation are recommended before testing.
2
During the Test:Sample collection and processing as per standard protocols.
3
After the Test:Review results with a healthcare provider and discuss implications.

About This Test

Who Should Get This Test

The purpose of the KNL1 Gene Microcephaly NGS Genetic Test is to confirm a diagnosis of autosomal recessive type 4 microcephaly by detecting mutations in the KNL1 gene. This helps in understanding the genetic basis of the condition, guiding treatment plans, and providing information for genetic counseling and family planning.

How to Prepare

  • Ensure patient identification is correct
  • Use sterile collection techniques
  • Label samples accurately
  • Transport samples at ambient room temperature

Doctor's Notes

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

"Early genetic testing for KNL1 gene mutations is crucial for timely intervention in microcephaly cases, aiding in family planning and management strategies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL
ContainerEDTA Tube or FTA Card
Collection MethodVenipuncture

Sample Stability

Blood samples: Stable for 48 hours at room temperature
Extracted DNA: Stable for years if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect labeling

Understanding Your Results

Interpretation of the KNL1 Gene Microcephaly NGS Genetic Test results involves identifying pathogenic mutations in the KNL1 gene. Positive results indicate a genetic cause for microcephaly, while negative results may require further testing.
📊

Positive for pathogenic variant

Confirms diagnosis of autosomal recessive microcephaly type 4 due to KNL1 gene mutation.

📊

Negative for pathogenic variant

No KNL1 gene mutations detected; consider other genetic or non-genetic causes.

📊

Variant of uncertain significance (VUS)

Further testing and clinical correlation recommended.

⚠️ When to Consult a Doctor:

Consult a geneticist or pediatric neurologist if test results are positive, or if symptoms persist despite negative results, for comprehensive management and counseling.

Limitations

  • ⚠May not detect all genetic variants due to technical limitations
  • ⚠Results require clinical correlation for diagnosis
  • ⚠Does not rule out other genetic causes of microcephaly

Risks & Considerations

  • ●Minimal physical risks from blood draw
  • ●Psychological impact of genetic results
  • ●Potential for uncertain results requiring further testing

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Recent blood transfusions

Compare With Similar Tests

TestKNL1 Gene Microcephaly, autosomal recessive type 4 NGS Genetic TestASPM Gene Microcephaly TestMCPH1 Gene Test
ComparisonKNL1 Gene Microcephaly, autosomal recessive type 4 NGS Genetic Test

Frequently Asked Questions

What is the KNL1 Gene Microcephaly NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the KNL1 gene, which causes autosomal recessive type 4 microcephaly.
Who should get this test?
Individuals with symptoms of microcephaly, such as small head size, developmental delays, or a family history of the condition.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, with free home sample collection available.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to identify mutations in the KNL1 gene.
What does a positive result mean?
A positive result confirms a diagnosis of autosomal recessive microcephaly type 4 due to KNL1 gene mutations.
What if the test is negative?
A negative result means no KNL1 mutations were detected, but other causes may need to be explored.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across India.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Can this test be used for prenatal diagnosis?
This test is typically for postnatal diagnosis; consult a genetic counselor for prenatal options.
What are the risks of the test?
Risks are minimal, including slight discomfort from blood draw and potential psychological impact of results.
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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