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CEP152 Gene Microcephaly, autosomal recessive type 9 NGS Genetic Test

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CEP152 Gene Microcephaly, autosomal recessive type 9 NGS Genetic Test

Short Name: CEP152 Microcephaly NGS Test

Also known as: CEP152-related microcephaly, Autosomal Recessive Microcephaly Type 9

CEP152 Gene Microcephaly, autosomal recessive type 9 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

The purpose of the CEP152 Gene Microcephaly NGS Genetic Test is to identify mutations in the CEP152 gene that cause autosomal recessive type 9 microcephaly. This test aids in confirming diagnosis, guiding treatment decisions, and providing information for genetic counseling and family planning.

Test Code
2776
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. Ensure genetic counseling is scheduled.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session. Provide clinical history and family pedigree.
2
During the Test:Blood sample collection. The test involves NGS analysis of the CEP152 gene.
3
After the Test:Wait for results (3-4 weeks). Follow up with genetic counseling for result interpretation.

About This Test

Who Should Get This Test

The purpose of the CEP152 Gene Microcephaly NGS Genetic Test is to identify mutations in the CEP152 gene that cause autosomal recessive type 9 microcephaly. This test aids in confirming diagnosis, guiding treatment decisions, and providing information for genetic counseling and family planning.

How to Prepare

  • Use sterile equipment for blood collection
  • Label samples correctly with patient details
  • Transport samples at ambient temperature
  • For FTA cards, follow manufacturer instructions

Doctor's Notes

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

"Early detection through genetic testing allows for timely intervention and management of microcephaly, improving developmental outcomes."

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 samples: stable for 48 hours at room temperature
Extracted DNA: stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrectly labeled samples
  • Contaminated samples

Understanding Your Results

Results from the CEP152 Gene Microcephaly NGS Genetic Test should be interpreted by a qualified geneticist or healthcare provider. A positive result indicates the presence of pathogenic mutations in the CEP152 gene, confirming autosomal recessive type 9 microcephaly. A negative result suggests no detectable mutations, but does not completely rule out other genetic causes.
Positive Result: Pathogenic mutation detected. Diagnosis confirmed. Genetic counseling recommended.
Negative Result: No pathogenic variants found. Consider other genetic tests if clinical suspicion remains.
Variant of Uncertain Significance (VUS): Further testing and family studies may be needed.
Report includes detailed findings and recommendations.
⚠️ When to Consult a Doctor:

Consult a doctor if your child shows signs of microcephaly, developmental delays, seizures, or if there is a family history of genetic disorders. Early consultation can facilitate timely diagnosis and intervention.

Limitations

  • ⚠May not detect all possible genetic variants
  • ⚠Results require interpretation by a geneticist
  • ⚠Does not rule out other genetic causes of microcephaly
  • ⚠Turnaround time is 3-4 weeks

Risks & Considerations

  • ●Minimal risks from blood draw: bruising, soreness, or infection at puncture site
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Hemolyzed blood samples
  • ●Incorrect sample storage conditions

Compare With Similar Tests

TestCEP152 Gene Microcephaly, autosomal recessive type 9 NGS Genetic TestASPM Gene Microcephaly TestMicrocephaly Gene PanelChromosomal Microarray Analysis
ComparisonCEP152 Gene Microcephaly, autosomal recessive type 9 NGS Genetic Test

Frequently Asked Questions

What is the CEP152 Gene Microcephaly NGS Genetic Test?
It is a genetic test that uses Next Generation Sequencing to detect mutations in the CEP152 gene, which causes autosomal recessive type 9 microcephaly.
Who should take this test?
Individuals with symptoms of microcephaly, developmental delays, or a family history of the condition. It is often recommended for children with suspected genetic microcephaly.
What is the cost of the test?
The test costs INR 20,000, which includes home sample collection across India.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to sequence the CEP152 gene for mutations.
What is the turnaround time for results?
Results are typically available within 3 to 4 weeks.
Is fasting required before the test?
No, fasting is not required for this genetic test.
What do the results mean?
A positive result confirms mutations in CEP152, indicating autosomal recessive type 9 microcephaly. A negative result means no mutations were detected, but other causes may exist.
Is genetic counseling available?
Yes, DNA Labs India provides genetic counseling before and after testing to help understand results and implications.
Can this test be done during pregnancy?
This test is typically postnatal. For prenatal testing, consult a genetic counselor for options like amniocentesis or CVS.
What are the symptoms of autosomal recessive type 9 microcephaly?
Symptoms include small head size, delayed development, intellectual disability, seizures, and brain abnormalities.
How accurate is the NGS Genetic Test?
NGS is highly accurate for detecting gene mutations, but no test is 100% foolproof. Results should be interpreted by a geneticist.
What should I do after receiving the results?
Consult with a geneticist or pediatrician to discuss the results, management options, and family planning.
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.

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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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