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CEP63 Gene Microcephaly, CEP63 related NGS Genetic Test

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CEP63 Gene Microcephaly, CEP63 related NGS Genetic Test

Short Name: CEP63 Microcephaly NGS Test

Also known as: CEP63 Gene Mutation Test, Microcephaly Genetic Panel, NGS for Microcephaly

CEP63 Gene Microcephaly, CEP63 related 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.

PediatricsPediatric🏠 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 mutations in the CEP63 gene associated with microcephaly, enabling early diagnosis, genetic counseling, and informed medical management for affected individuals and families.

Test Code
2762
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
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Provide clinical history and family pedigree information.

Method: Venipuncture or blood drop

Step 2

Laboratory Analysis

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

Step 3

Report Delivery

Apply pressure to the puncture site. Store sample as per instructions for stability.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and family pedigree. Genetic counseling session recommended.
2
During the Test:Sample collection and processing in the lab using NGS technology.
3
After the Test:Results delivered in 3-4 weeks. Follow-up with genetic counselor for interpretation.

About This Test

Who Should Get This Test

To detect mutations in the CEP63 gene associated with microcephaly, enabling early diagnosis, genetic counseling, and informed medical management for affected individuals and families.

How to Prepare

  • Ensure proper identification of patient
  • Use sterile equipment
  • Label samples correctly
  • Transport at ambient temperature

Doctor's Notes

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

"Early genetic testing for CEP63-related microcephaly can guide management and family planning. Consult a genetic counselor for personalized advice."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood drop

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient volume
  • Incorrect labeling
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the CEP63 gene. Positive results confirm CEP63-related microcephaly, while negative results may require further testing.
📊

Positive for pathogenic variant

Confirms CEP63-related microcephaly. Genetic counseling recommended for management and family planning.

📊

Negative for pathogenic variant

No CEP63 mutation detected. Consider other genetic causes or clinical evaluation.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

If symptoms such as small head size, developmental delays, or seizures are observed, or if there is a family history of microcephaly.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires interpretation by genetic counselor
  • ⚠Results may have implications for family members

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Improper sample storage

Compare With Similar Tests

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ComparisonCEP63 Gene Microcephaly, CEP63 related NGS Genetic Test

Frequently Asked Questions

What is the CEP63 Gene Microcephaly NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the CEP63 gene associated with microcephaly, a condition characterized by small head size and brain development issues.
Who should consider this test?
Infants or children with symptoms like small head circumference, developmental delays, seizures, or a family history of microcephaly should consider this test.
What is the cost of the test in India?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available across many cities.
How is the sample collected?
A blood sample is collected via venipuncture or a blood drop on an FTA card, which can be done at home or in a lab.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate if a pathogenic variant in the CEP63 gene is detected. Positive results confirm CEP63-related microcephaly, while negative results may require further evaluation.
Is genetic counseling provided?
Yes, DNA Labs India offers genetic counseling to help understand test results and guide next steps.
Can this test be done for prenatal diagnosis?
This test is primarily for postnatal diagnosis. For prenatal testing, consult a healthcare provider for appropriate options.
What are the risks of the test?
The test involves minimal risks from blood draw, such as bruising. Genetic results may have emotional implications, so counseling is recommended.
Is the test covered by insurance?
Coverage varies by insurance provider. Check with your insurer or DNA Labs India for details on schemes like PMJAY or CGHS.
How accurate is the NGS technology used?
NGS is highly accurate for detecting gene mutations, but no test is 100% foolproof. Results should be interpreted by a genetic specialist.
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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