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MBTPS2 Gene Ichthyosis follicularis, atricia, and photophobia syndrome NGS Genetic Test

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MBTPS2 Gene Ichthyosis follicularis, atricia, and photophobia syndrome NGS Genetic Test

Short Name: MBTPS2 Gene IFAP Syndrome NGS Test

Also known as: IFAP Syndrome, Ichthyosis Follicularis, Atricia, and Photophobia Syndrome

MBTPS2 Gene Ichthyosis follicularis, atricia, and photophobia syndrome 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.

Next Generation Sequencing (NGS)🏠 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 identify pathogenic mutations in the MBTPS2 gene to confirm a diagnosis of IFAP syndrome, guide treatment decisions, and provide information for genetic counseling and family planning.

Test Code
4994
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

No specific preparation is required. Ensure clinical history and genetic counseling are completed.

Method: Venipuncture or FTA Card Collection

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm, or a drop of blood will be collected on an FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball to stop bleeding. Keep the area clean.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to discuss the test, implications, and family history.
2
During the Test:Sample collection is quick and minimally invasive, typically taking a few minutes.
3
After the Test:Results will be available in 3 to 4 weeks. Follow up with a healthcare provider for interpretation and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic mutations in the MBTPS2 gene to confirm a diagnosis of IFAP syndrome, guide treatment decisions, and provide information for genetic counseling and family planning.

How to Prepare

  • Verify patient identity
  • Use sterile collection equipment
  • Label samples correctly
  • Store samples as per guidelines

Doctor's Notes

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

"Genetic testing for IFAP syndrome is crucial for early diagnosis, management, and family planning. Consult a genetic counselor for personalized advice."

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 Stability

Blood samples are stable for 48 hours at room temperature
FTA cards are stable for extended periods at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect labeling

Understanding Your Results

Interpretation of genetic test results for IFAP syndrome involves analyzing the MBTPS2 gene for mutations. Results should be reviewed by a genetic counselor or healthcare professional.
Positive result: Pathogenic variant detected in MBTPS2 gene, confirming IFAP syndrome diagnosis
Negative result: No pathogenic variants detected; clinical correlation recommended
Variant of uncertain significance: Further testing or family studies may be needed
⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms of IFAP syndrome, such as dry skin, hair loss, hearing issues, or light sensitivity, or if there is a family history of the disorder.

Limitations

  • ⚠Test may not detect all types of mutations
  • ⚠Results require interpretation by a genetic counselor
  • ⚠Does not rule out other genetic disorders

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Potential psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Improper sample storage

Compare With Similar Tests

TestMBTPS2 Gene Ichthyosis follicularis, atricia, and photophobia syndrome NGS Genetic Test
ComparisonMBTPS2 Gene Ichthyosis follicularis, atricia, and photophobia syndrome NGS Genetic Test

Frequently Asked Questions

What is IFAP syndrome?
IFAP syndrome is a rare genetic disorder characterized by ichthyosis follicularis (dry, scaly skin), atricia (absent ear canals), and photophobia (light sensitivity), caused by mutations in the MBTPS2 gene.
What causes IFAP syndrome?
IFAP syndrome is caused by mutations in the MBTPS2 gene, which is involved in protein processing. It is inherited in an X-linked recessive pattern.
What are the symptoms of IFAP syndrome?
Symptoms include dry, scaly skin, hair loss, thickened nails, absent or underdeveloped ear canals, hearing loss, and sensitivity to light.
How is IFAP syndrome diagnosed?
Diagnosis is based on clinical symptoms and confirmed through genetic testing, such as the MBTPS2 Gene NGS Genetic Test.
What is the MBTPS2 Gene NGS Genetic Test?
It is a Next Generation Sequencing test that analyzes the MBTPS2 gene to identify mutations associated with IFAP syndrome.
How is the test performed?
The test requires a blood sample or extracted DNA, which is analyzed using NGS technology to detect genetic variants.
What is the cost of the test?
The cost of the MBTPS2 Gene NGS Genetic Test at DNA Labs India is INR 20,000.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results mean?
A positive result indicates a pathogenic mutation in the MBTPS2 gene, confirming IFAP syndrome. A negative result means no mutations were detected. Consult a genetic counselor for interpretation.
Is genetic counseling recommended?
Yes, genetic counseling is recommended before and after testing to understand the implications, results, and family planning options.
Where can I get this test done?
You can book the test at DNA Labs India through our website or contact us for assistance. Home collection is available in multiple cities across India.
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.

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