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P4HB Gene Cole-Carpenter syndrome type 1 NGS Genetic Test

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P4HB Gene Cole-Carpenter syndrome type 1 NGS Genetic Test

P4HB Gene Cole-Carpenter syndrome type 1 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 from sample receipt. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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 this test is to detect mutations in the P4HB gene using Next-Generation Sequencing to confirm a diagnosis of Cole-Carpenter syndrome type 1, guide clinical management, and facilitate genetic counseling.

Test Code
2385
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

A detailed clinical history of the patient is required. A genetic counseling session is recommended to draw a pedigree chart of family members affected with Cole-Carpenter syndrome type 1.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Standard blood collection via venipuncture or one drop of blood on an FTA card. Ensure proper labeling and handling.

Step 3

Report Delivery

Sample is transported to the lab at ambient temperature for NGS analysis. Reports are delivered in 3 to 4 weeks.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are advised before sample collection.
2
During the Test:Non-invasive blood draw or FTA card collection performed by trained personnel.
3
After the Test:Report delivered online; follow-up with a genetic specialist recommended.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the P4HB gene using Next-Generation Sequencing to confirm a diagnosis of Cole-Carpenter syndrome type 1, guide clinical management, and facilitate genetic counseling.

How to Prepare

  • Provide complete clinical history and family pedigree
  • Ensure sample is collected in a sterile environment
  • Label samples accurately with patient details
  • Transport samples at room temperature as per guidelines

Doctor's Notes

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

"Genetic testing for P4HB gene mutations is essential for diagnosing Cole-Carpenter syndrome type 1, guiding clinical management, and informing family planning decisions."

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 collection
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Incorrectly labeled or unlabeled samples

Understanding Your Results

Results indicate whether pathogenic mutations in the P4HB gene are detected. A positive result confirms Cole-Carpenter syndrome type 1, while a negative result suggests no known variants but does not rule out other genetic causes.
📊

Pathogenic variant detected

Confirms diagnosis of Cole-Carpenter syndrome type 1, guiding management and genetic counseling.

📊

Variant of uncertain significance

Requires further family studies or clinical correlation; genetic counseling recommended.

📊

No pathogenic variant detected

Reduces likelihood of P4HB-related syndrome, but clinical symptoms may warrant further testing.

⚠️ When to Consult a Doctor:

Consult a geneticist or dermatologist if symptoms suggestive of Cole-Carpenter syndrome type 1 are present, such as unexplained bone fractures, skin fragility, or eye abnormalities, especially with a family history.

Limitations

  • ⚠May not detect all types of genetic variants (e.g., large deletions or epigenetic changes)
  • ⚠Results require interpretation by a genetic counselor or specialist
  • ⚠Not suitable for prenatal diagnosis without additional validation

Risks & Considerations

  • ●Minimal risk associated with blood draw (e.g., bruising, infection)
  • ●Psychological impact of genetic testing results

Interfering Factors

  • ●Poor sample quality (e.g., hemolyzed or degraded DNA)
  • ●Contamination during sample collection or processing
  • ●Recent blood transfusions affecting DNA integrity

Frequently Asked Questions

What is P4HB Gene Cole-Carpenter Syndrome Type 1?
It is a rare genetic disorder caused by mutations in the P4HB gene, leading to bone fragility, skin abnormalities, and eye problems due to defective collagen formation.
Why is this genetic test recommended?
The test is recommended to confirm diagnosis in individuals with symptoms of Cole-Carpenter syndrome type 1, guide treatment, and provide genetic counseling for families.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used for sample collection.
How is the test performed?
Next-Generation Sequencing (NGS) technology analyzes the P4HB gene for mutations, providing comprehensive genetic analysis.
What is the cost of the test?
The test costs INR 20000, including genetic counseling and home collection across India.
Is home sample collection available?
Yes, free home collection is available in numerous cities across India as listed by DNA Labs India.
How long does it take to get results?
Reports are typically available in 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result confirms a mutation in the P4HB gene, diagnosing Cole-Carpenter syndrome type 1 and aiding in management planning.
Are there any risks to the test?
The test involves minimal risks from blood draw, such as bruising, and potential psychological effects from results.
How should I prepare for the test?
No fasting is required; provide a detailed clinical history and undergo genetic counseling before sample collection.
Is genetic counseling included?
Yes, genetic counseling is included to discuss results, implications, and family pedigree charting.
Can this test be used for prenatal diagnosis?
This test is not validated for prenatal diagnosis; consult a genetic specialist for prenatal options.
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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