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DNA Labs India

CYP4F22 Gene Ichthyosis, lamellar type 3 NGS Genetic Test

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CYP4F22 Gene Ichthyosis, lamellar type 3 NGS Genetic Test

Short Name: CYP4F22 Ichthyosis Test

Also known as: Lamellar Ichthyosis Type 3, CYP4F22-related Ichthyosis

CYP4F22 Gene Ichthyosis, lamellar 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.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of this test is to diagnose lamellar type 3 ichthyosis by identifying pathogenic mutations in the CYP4F22 gene using NGS technology, enabling accurate confirmation and genetic counseling.

Test Code
4999
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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members are required before sample collection.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Standard blood draw via venipuncture or collection of one drop of blood on an FTA card, following aseptic techniques.

Step 3

Report Delivery

Sample is labeled, stored at ambient room temperature, and shipped to the laboratory for processing.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are required before testing.
2
During the Test:Sample collection via blood draw or FTA card; no special procedures during the test itself.
3
After the Test:Results are available in 3 to 4 weeks; genetic counseling is provided to discuss findings.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose lamellar type 3 ichthyosis by identifying pathogenic mutations in the CYP4F22 gene using NGS technology, enabling accurate confirmation and genetic counseling.

How to Prepare

  • Provide detailed clinical history and family pedigree information.
  • Ensure sample is collected in a sterile environment.
  • Use appropriate collection tubes or FTA cards as specified.
  • Avoid hemolysis or clotting of the blood sample.

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"This NGS test is essential for confirming lamellar ichthyosis type 3 caused by CYP4F22 mutations, aiding in accurate diagnosis and family genetic counseling."

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 sample
  • Insufficient sample volume
  • Improperly labeled or contaminated sample

Understanding Your Results

Results are interpreted based on the presence or absence of pathogenic mutations in the CYP4F22 gene. A positive result confirms the genetic cause of lamellar type 3 ichthyosis, while a negative result may require further clinical evaluation.
Positive: Pathogenic variant(s) detected – confirms diagnosis of CYP4F22-related lamellar ichthyosis.
Negative: No pathogenic variants detected – does not rule out other genetic causes; clinical correlation recommended.
Variant of uncertain significance (VUS): Further testing or family studies may be needed.
⚠️ When to Consult a Doctor:

Consult a doctor if symptoms of ichthyosis are present, for genetic counseling after test results, or for family planning if a mutation is identified.

Limitations

  • ⚠This test is specific to the CYP4F22 gene and may not detect mutations in other genes associated with ichthyosis.
  • ⚠It does not rule out other genetic or environmental causes of similar skin symptoms.
  • ⚠Results require interpretation by a qualified geneticist or healthcare provider.

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection from venipuncture

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Insufficient sample volume

Frequently Asked Questions

What is the CYP4F22 Gene Ichthyosis NGS Genetic Test?
It is a Next-Generation Sequencing test that analyzes the CYP4F22 gene to identify mutations causing lamellar type 3 ichthyosis, a rare genetic skin disorder.
What are the symptoms of lamellar type 3 ichthyosis?
Symptoms include dry, scaly, thickened skin, scaling on scalp, ears, eyelids, palms, and soles, nail overgrowth, and red, itchy skin, often present at birth.
How is the test performed?
The test involves sequencing the entire CYP4F22 gene using NGS technology from a blood sample, extracted DNA, or blood on an FTA card.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, which includes gene sequencing and genetic counseling.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
How long does it take to get the results?
Reports are typically delivered within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result indicates the presence of pathogenic mutations in the CYP4F22 gene, confirming the diagnosis of lamellar type 3 ichthyosis.
Can this test be used for prenatal diagnosis?
While the test itself is for postnatal diagnosis, prenatal genetic testing for CYP4F22 mutations may be available through specialized services; consult a genetic counselor.
Are there any risks associated with the test?
Risks are minimal and similar to standard blood draws, such as minor bruising or discomfort at the collection site.
How should I prepare for the test?
No fasting is required. Provide clinical history and participate in a genetic counseling session before sample collection.
What if my test results are negative but I have symptoms?
A negative result does not rule out other genetic or environmental causes; consult a dermatologist or geneticist for further evaluation.
Is genetic counseling included with the test?
Yes, DNA Labs India includes genetic counseling services to help patients and families understand the test results and implications.
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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