CENPJ Gene Microcephaly, autosomal recessive type 6 NGS Genetic Test
Also known as: CENPJ Gene Microcephaly, Autosomal Recessive Microcephaly Type 6
CENPJ Gene Microcephaly, autosomal recessive type 6 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.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of the CENPJ Gene Microcephaly NGS Genetic Test is to confirm the diagnosis of autosomal recessive type 6 microcephaly by detecting mutations in the CENPJ gene, aiding in clinical management, genetic counseling, and family planning.
- Test Code
- 2765
- 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
Sample Collection
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with CENPJ gene microcephaly.
Laboratory Analysis
Sample collection via venipuncture for blood or using FTA card for one drop blood.
Report Delivery
Samples are processed for NGS analysis; results are available in 3 to 4 weeks.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the CENPJ Gene Microcephaly NGS Genetic Test is to confirm the diagnosis of autosomal recessive type 6 microcephaly by detecting mutations in the CENPJ gene, aiding in clinical management, genetic counseling, and family planning.
How to Prepare
- Ensure proper identification of the patient
- Use sterile equipment for blood collection
- Label samples correctly with patient details
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of CENPJ gene microcephaly; genetic counseling recommended.
Negative for pathogenic variant
No mutations detected; consider other genetic or environmental causes.
Variant of uncertain significance
Further testing or family studies may be needed for clarification.
Consult a doctor if symptoms such as small head size, developmental delays, seizures, or other neurological signs are present, especially with a family history of microcephaly.
Risks & Considerations
- ●Minor bruising or pain at the blood draw site
- ●Rare risk of infection
Frequently Asked Questions
What is the CENPJ Gene Microcephaly NGS Genetic Test?
Who should consider this test?
How is the test performed?
What is the cost of the test?
Is home sample collection available?
How long does it take to get results?
What are the risks of the test?
How should I prepare for the test?
What do the results mean?
Is the test covered by insurance?
Can this test be used for prenatal diagnosis?
What other tests are related to microcephaly?
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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.
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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