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CENPE Gene Microcephaly, autosomal recessive type 13 NGS Genetic Test

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CENPE Gene Microcephaly, autosomal recessive type 13 NGS Genetic Test

Short Name: CENPE Microcephaly NGS Genetic Test

Also known as: CENPE Microcephaly, Autosomal Recessive Microcephaly Type 13

CENPE Gene Microcephaly, autosomal recessive type 13 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 3-4 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

The purpose of this test is to identify mutations in the CENPE gene that cause autosomal recessive microcephaly type 13, enabling accurate diagnosis, genetic counseling, and informed medical management.

Test Code
2769
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide detailed clinical history and undergo genetic counseling to document family pedigree.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or using an FTA card for a drop of blood.

Step 3

Report Delivery

Sample will be sent to the laboratory for analysis. Results available in 3-4 weeks.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review.
2
During the Test:Sample collection and processing in the laboratory.
3
After the Test:Report generation and delivery, followed by genetic counseling for result interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the CENPE gene that cause autosomal recessive microcephaly type 13, enabling accurate diagnosis, genetic counseling, and informed medical management.

How to Prepare

  • Ensure proper identification of patient
  • Use sterile collection equipment
  • Label sample correctly

Doctor's Notes

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

"Early genetic testing for microcephaly can guide management and family planning, especially in families with a history of genetic disorders."

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 of blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 24 hours at room temperature
FTA card stable for extended period
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improperly labeled sample

Understanding Your Results

Genetic test results should be interpreted by a qualified geneticist or healthcare provider in the context of clinical findings and family history.
Positive for pathogenic variant: Confirms diagnosis of CENPE gene microcephaly.
Negative: No pathogenic variants detected; clinical correlation needed.
Variant of uncertain significance: Requires further evaluation.
⚠️ When to Consult a Doctor:

If your child shows symptoms of microcephaly or developmental delays, consult a pediatrician or geneticist for evaluation and possible genetic testing.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Results require clinical correlation
  • ⚠Genetic counseling recommended for interpretation

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare infection risk
  • ●No significant risks associated with genetic testing itself

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestCENPE Gene Microcephaly, autosomal recessive type 13 NGS Genetic TestWhole Exome SequencingKaryotyping
ComparisonCENPE Gene Microcephaly, autosomal recessive type 13 NGS Genetic Test

Frequently Asked Questions

What is CENPE gene microcephaly?
CENPE gene microcephaly is a rare genetic disorder caused by mutations in the CENPE gene, leading to autosomal recessive microcephaly type 13, characterized by small head size and developmental delays.
How is CENPE gene microcephaly diagnosed?
It is diagnosed through genetic testing, specifically next-generation sequencing (NGS), which analyzes the CENPE gene for mutations.
What are the symptoms of CENPE gene microcephaly?
Symptoms include small head circumference, intellectual disability, delayed motor and speech development, seizures, and abnormal facial features.
What is the cost of the NGS genetic test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
How long does it take to get results?
Results are typically available within 3-4 weeks after sample collection.
What sample type is required?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required for the test?
No, fasting is not required for this genetic test.
Who should consider this test?
Children suspected of having microcephaly, families with a history of the condition, or those with developmental delays should consider this test.
What does a positive result mean?
A positive result confirms the presence of pathogenic mutations in the CENPE gene, indicating CENPE gene microcephaly.
Can this test be used for prenatal diagnosis?
Prenatal diagnosis may be possible if there is a known family history, but consultation with a genetic counselor is recommended.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting gene mutations, but results should be interpreted in conjunction with clinical findings and genetic counseling.
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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