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PHC1 Gene Microcephaly, autosomal recessive type 11 NGS Genetic Test

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PHC1 Gene Microcephaly, autosomal recessive type 11 NGS Genetic Test

Also known as: PHC1 Gene Microcephaly, Microcephaly Type 11

PHC1 Gene Microcephaly, autosomal recessive type 11 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose PHC1 gene-related microcephaly through genetic analysis, aiding in clinical management and genetic counseling.

Test Code
2764
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

Provide clinical history and undergo genetic counseling.

Step 2

Laboratory Analysis

Blood sample collection via venipuncture.

Step 3

Report Delivery

Sample sent to lab for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation.
2
During the Test:Sample collection and processing.
3
After the Test:Report generation and counseling.

About This Test

Who Should Get This Test

To diagnose PHC1 gene-related microcephaly through genetic analysis, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper sample handling
  • Use FTA card for one drop blood if applicable

Doctor's Notes

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

"Genetic testing for PHC1 mutations is crucial for accurate diagnosis and family counseling in cases of suspected microcephaly."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Stable at room temperature for 24 hours
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume

Understanding Your Results

Results indicate presence or absence of PHC1 gene mutations.
Mutation detected: Consistent with PHC1-related microcephaly
No mutation: Condition less likely, consider other causes
⚠️ When to Consult a Doctor:

If symptoms of microcephaly are present or family history of genetic disorders.

Limitations

  • ⚠May not detect all mutations
  • ⚠Requires genetic counseling for interpretation

Risks & Considerations

  • ●Emotional distress
  • ●Insurance implications

Interfering Factors

  • ●Sample degradation
  • ●Contamination
  • ●Technical errors

Compare With Similar Tests

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Frequently Asked Questions

What is PHC1 Gene Microcephaly?
PHC1 Gene Microcephaly is a rare genetic condition caused by mutations in the PHC1 gene, leading to autosomal recessive microcephaly type 11, characterized by a smaller head size and neurological symptoms.
What are the symptoms of PHC1 Gene Microcephaly?
Symptoms include seizures, developmental delays, cognitive impairment, speech delays, abnormal head shape, facial abnormalities, and motor coordination problems.
How is PHC1 Gene Microcephaly diagnosed?
Diagnosis involves physical exams, medical history, and genetic testing such as NGS to identify mutations in the PHC1 gene.
What is the cost of the NGS Genetic Test in India?
The cost is INR 20000 at DNA Labs India, with home sample collection available.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across India.
How long does it take to get the test results?
Reports are delivered in 3 to 4 weeks.
What sample is required for the test?
Blood, extracted DNA, or one drop blood on FTA card.
Is genetic counseling necessary?
Yes, genetic counseling is recommended before and after testing for proper interpretation and guidance.
Can this test be used for prenatal diagnosis?
Consult a genetic counselor for prenatal testing options, as this test is typically postnatal.
What are the limitations of the test?
Limitations include potential failure to detect all mutations and the need for genetic counseling.
Is the test covered by insurance?
Coverage depends on the insurance provider; check with your insurer.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting gene mutations, but 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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