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SLURP1 Gene Mal de Meleda NGS Genetic Test

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SLURP1 Gene Mal de Meleda NGS Genetic Test

Also known as: Mal de Meleda

SLURP1 Gene Mal de Meleda 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

🩺 Medically Reviewed By

Overview

To diagnose Mal de Meleda by identifying mutations in the SLURP1 gene using NGS technology, enabling accurate diagnosis and informed management.

Test Code
2435
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 Mal de Meleda.

Method: Blood sample

Step 2

Laboratory Analysis

Blood sample collection via venipuncture.

Step 3

Report Delivery

Sample is processed for DNA extraction and NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment.
2
During the Test:Blood sample collection and processing.
3
After the Test:Analysis and report generation with genetic counseling.

About This Test

Who Should Get This Test

To diagnose Mal de Meleda by identifying mutations in the SLURP1 gene using NGS technology, enabling accurate diagnosis and informed management.

How to Prepare

  • Provide a blood sample as instructed
  • No fasting required
  • Ensure sample is properly labeled

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic testing for Mal de Meleda can aid in management and family planning, especially for families with a history of the disorder."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood sample
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Improperly labeled sample

Understanding Your Results

Results indicate the presence or absence of mutations in the SLURP1 gene associated with Mal de Meleda.
Positive: Pathogenic mutation detected, confirming diagnosis.
Negative: No pathogenic mutations detected, but clinical correlation is advised.
Variant of uncertain significance: Further testing or family studies may be needed.
⚠️ When to Consult a Doctor:

If symptoms of Mal de Meleda are present, or if there is a family history of the disorder, consult a dermatologist or genetic counselor.

Limitations

  • May not detect all possible mutations
  • Requires genetic counseling for accurate interpretation

Risks & Considerations

  • Minor bruising at blood draw site
  • Rare infection risk

Interfering Factors

  • Sample degradation
  • Contamination

Frequently Asked Questions

What is Mal de Meleda?
Mal de Meleda is a rare genetic skin disorder characterized by thick, scaly skin on the palms and soles, caused by mutations in the SLURP1 gene.
What causes Mal de Meleda?
It is caused by mutations in the SLURP1 gene, which provides instructions for a protein involved in skin development and maintenance.
What are the symptoms of Mal de Meleda?
Symptoms include thick, scaly skin on palms and soles, excessive sweating, cracked skin, deformities of fingers and toes, and joint pain.
How is Mal de Meleda diagnosed?
Diagnosis is based on symptoms and genetic testing, such as the SLURP1 Gene NGS Genetic Test.
What is the SLURP1 Gene Mal de Meleda NGS Genetic Test?
It is a genetic test using NGS technology to identify mutations in the SLURP1 gene for diagnosing Mal de Meleda.
How is the test performed?
The test requires a blood sample or extracted DNA, which is analyzed using NGS to detect SLURP1 gene mutations.
What is the cost of the test?
The cost is INR 20,000, including sample collection, DNA sequencing, and genetic counseling.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across many cities in India.
How long does it take to get results?
Results are usually available within 3 to 4 weeks.
What do the test results mean?
Results indicate the presence or absence of SLURP1 gene mutations. Positive results confirm diagnosis, while negative results may require further evaluation.
Is genetic counseling provided?
Yes, genetic counseling is included before and after testing to help understand the results and implications.
Can the test be used for family planning?
Yes, genetic testing can inform family planning decisions by identifying carriers and assessing risk for offspring.
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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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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