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EFEMP2 Gene Cutis laxa type 1B, autosomal recessive NGS Genetic Test

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EFEMP2 Gene Cutis laxa type 1B, autosomal recessive NGS Genetic Test

Short Name: EFEMP2 Gene Test

Also known as: Cutis Laxa Type 1B, EFEMP2-related Cutis Laxa

EFEMP2 Gene Cutis laxa type 1B, autosomal recessive 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose Cutis Laxa Type 1B by detecting pathogenic mutations in the EFEMP2 gene using Next-Generation Sequencing (NGS), aiding in clinical management and genetic counseling.

Test Code
4878
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 family members affected with Cutis Laxa Type 1B.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample collection via venipuncture or one drop blood on FTA card.

Step 3

Report Delivery

Sample sent to laboratory for NGS analysis; results available in 3 to 4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are recommended before testing.
2
During the Test:Blood sample collection is a minimally invasive procedure with minimal discomfort.
3
After the Test:Monitor for any post-collection symptoms; follow up for result interpretation and management plan.

About This Test

Who Should Get This Test

To diagnose Cutis Laxa Type 1B by detecting pathogenic mutations in the EFEMP2 gene using Next-Generation Sequencing (NGS), aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper identification and consent
  • Use sterile equipment for blood collection
  • For FTA card, apply one drop of blood and air-dry

Doctor's Notes

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

"Genetic counseling is essential for families with a history of Cutis Laxa to understand inheritance patterns and management options."

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

Sample Stability

Blood samples stable at ambient temperature for 24 hours
FTA cards stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or contaminated samples
  • Insufficient sample volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the EFEMP2 gene. Positive results confirm diagnosis, while negative results may require further testing if clinical suspicion remains high.
📊

Positive for pathogenic variant

Confirms diagnosis of Cutis Laxa Type 1B; genetic counseling recommended for family planning.

📊

Negative for pathogenic variant

No EFEMP2 mutations detected; consider other genetic or clinical causes if symptoms persist.

📊

Variant of uncertain significance

Further evaluation and family studies may be needed for clinical correlation.

⚠️ When to Consult a Doctor:

Consult a geneticist or dermatologist if symptoms such as loose skin, respiratory issues, or joint problems are present, or if there is a family history of Cutis Laxa.

Limitations

  • ⚠May not detect all genetic variants due to technical limitations
  • ⚠Results require correlation with clinical findings and family history

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results; counseling available

Frequently Asked Questions

What is EFEMP2 Gene Cutis Laxa Type 1B?
It is a rare autosomal recessive genetic disorder caused by mutations in the EFEMP2 gene, leading to connective tissue defects and symptoms like loose skin and respiratory problems.
How is Cutis Laxa Type 1B diagnosed?
Diagnosis involves clinical examination, family history, and genetic testing using NGS to detect EFEMP2 gene mutations.
What is the cost of the NGS genetic test in India?
The test costs INR 20,000, with free home sample collection available across India.
What are the symptoms of Cutis Laxa Type 1B?
Symptoms include loose, saggy skin, premature wrinkles, poor wound healing, joint problems, respiratory issues, and eye problems.
Is the test painful?
The test involves a simple blood draw, which may cause minimal discomfort, but it is generally well-tolerated.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Can this test be done at home?
Yes, free home sample collection is available for online bookings in many cities across India.
What if the test results are positive?
Positive results confirm the diagnosis, and genetic counseling is recommended for family planning and management strategies.
Is there a cure for Cutis Laxa Type 1B?
There is no cure; treatment focuses on managing symptoms through surgery, physical therapy, and supportive care.
Who should consider this test?
Individuals with symptoms of Cutis Laxa or a family history of the disorder should consider genetic testing.
What is the inheritance pattern?
It is autosomal recessive, meaning both parents must carry one mutated gene for a child to be affected, with a 25% risk per pregnancy.
Are there any risks associated with the test?
Risks are minimal, mainly related to blood draw, such as bruising. Psychological support is available for result interpretation.
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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