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CDK5RAP2 Gene Microcephaly, autosomal recessive type 3 NGS Genetic Test

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CDK5RAP2 Gene Microcephaly, autosomal recessive type 3 NGS Genetic Test

Short Name: CDK5RAP2 Microcephaly NGS Test

Also known as: Microcephaly Type 3, CDK5RAP2-related microcephaly, Autosomal Recessive Primary Microcephaly 3

CDK5RAP2 Gene Microcephaly, autosomal recessive type 3 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.

Next-Generation Sequencing (NGS)Pediatrics🏠 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 the CDK5RAP2 Gene Microcephaly NGS Genetic Test is to identify mutations or variants in the CDK5RAP2 gene that cause Microcephaly, Autosomal Recessive Type 3. This test helps confirm diagnosis, guide treatment plans, and provide information for family planning and genetic counseling.

Test Code
2770
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
NGS Technology
Step 1

Sample Collection

Ensure a genetic counseling session is scheduled to discuss the test and draw a pedigree chart. Provide clinical history of the patient.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Sample collection via venipuncture for blood or using an FTA card for one drop of blood. Follow standard phlebotomy procedures.

Step 3

Report Delivery

Label the sample correctly and transport to the laboratory under appropriate conditions. Await report generation in 3 to 4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss implications and draw a family pedigree chart. Provide detailed clinical history.
2
During the Test:Blood sample collection or DNA extraction as per standard protocols.
3
After the Test:Wait for report generation in 3 to 4 weeks. Discuss results with a healthcare provider for interpretation and next steps.

About This Test

Who Should Get This Test

The purpose of the CDK5RAP2 Gene Microcephaly NGS Genetic Test is to identify mutations or variants in the CDK5RAP2 gene that cause Microcephaly, Autosomal Recessive Type 3. This test helps confirm diagnosis, guide treatment plans, and provide information for family planning and genetic counseling.

How to Prepare

  • Schedule a genetic counseling session prior to testing.
  • Collect blood sample using sterile techniques.
  • Use FTA card for one drop of blood if specified.
  • Ensure proper labeling and documentation.

Doctor's Notes

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

"Consult a genetic counselor or medical geneticist for personalized advice on testing and management of CDK5RAP2-related microcephaly."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card

Sample Stability

Blood samples: stable for 24-48 hours at room temperature
Extracted DNA: stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or contaminated samples
  • Insufficient sample volume
  • Incorrect labeling or documentation

Understanding Your Results

Results from the CDK5RAP2 Gene Microcephaly NGS Genetic Test indicate the presence or absence of pathogenic variants in the CDK5RAP2 gene. Interpretation should be done by a qualified geneticist or healthcare provider.
📊

No pathogenic variants detected

Normal result; no mutations in CDK5RAP2 gene associated with microcephaly type 3.

📊

Pathogenic variant detected

Confirms diagnosis of Microcephaly, Autosomal Recessive Type 3; genetic counseling recommended.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a doctor if your child shows signs of microcephaly, such as a small head size, developmental delays, seizures, or abnormal muscle tone. Early consultation with a geneticist or neurologist is advised for diagnosis and management.

Limitations

  • ⚠This test only analyzes the CDK5RAP2 gene and may not detect mutations in other genes associated with microcephaly.
  • ⚠Results may require confirmation with additional testing.
  • ⚠Genetic variants of uncertain significance may be identified.

Risks & Considerations

  • ●Minimal physical risks from blood draw
  • ●Potential psychological impact of genetic results
  • ●Risk of incidental findings

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Incorrect sample collection or storage

Frequently Asked Questions

What is CDK5RAP2 Gene Microcephaly?
CDK5RAP2 Gene Microcephaly is a rare genetic condition caused by mutations in the CDK5RAP2 gene, leading to Microcephaly, Autosomal Recessive Type 3, characterized by a significantly smaller head size and developmental delays.
What are the symptoms of CDK5RAP2 Gene Microcephaly?
Symptoms include a small head circumference at birth, delayed development, intellectual disability, seizures, abnormal muscle tone, and difficulties with coordination and balance.
How is CDK5RAP2 Gene Microcephaly diagnosed?
Diagnosis involves physical examination, medical history review, and genetic testing, with NGS Genetic Testing being the most accurate method to identify mutations in the CDK5RAP2 gene.
What is the cost of the NGS Genetic Test for CDK5RAP2 Gene Microcephaly in India?
The cost is approximately INR 20,000, and it may need to be paid out-of-pocket as it is usually not covered by health insurance.
What sample types are accepted for this test?
Accepted samples include blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available for this test?
Yes, free home sample collection is available for online bookings across many cities in India.
What should I do before the test?
Before the test, schedule a genetic counseling session to discuss the test implications and provide a detailed clinical history of the patient.
Can this test detect other genetic conditions?
No, this test specifically analyzes the CDK5RAP2 gene for mutations related to microcephaly type 3. For other conditions, different tests may be needed.
What does a positive result mean?
A positive result indicates the presence of a pathogenic variant in the CDK5RAP2 gene, confirming a diagnosis of Microcephaly, Autosomal Recessive Type 3. Genetic counseling is recommended.
Who should consider this genetic test?
This test is recommended for individuals with symptoms of microcephaly, a family history of the condition, or those seeking genetic diagnosis for developmental delays.
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

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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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