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Genodermatoses Exome Sequencing Panel Test

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Genodermatoses Exome Sequencing Panel Test

Genodermatoses Exome Sequencing Panel Test test available at DNA Labs India for ₹30,000. Uses NGS (Next-Generation Sequencing), Sanger sequencing on Whole blood from Lavender Top (EDTA) tubes samples. Results in 30 Working days. Free home collection in 300+ cities across India.

Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To diagnose inherited skin diseases by detecting mutations in genes associated with genodermatoses, aiding in accurate diagnosis, treatment planning, and genetic counseling.

Test Code
660
Price
₹30,000
Sample Type
Whole blood from Lavender Top (EDTA) tubes
Result Time
30 Working days
Fasting Required
No
Method
NGS (Next-Generation Sequencing), Sanger sequencing
Step 1

Sample Collection

Duly filled Genodermatoses Exome Sequencing Consent Form (Form 48) is mandatory. Ensure proper identification and medical history documentation.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard venipuncture procedure for blood collection from a vein in the arm.

Step 3

Report Delivery

Ship refrigerated. DO NOT FREEZE. Handle with care to avoid sample degradation.

Timeline: 30 Working days

Patient Instructions

1
Before the Test:Complete the mandatory consent form (Form 48) and provide a blood sample as instructed.
2
During the Test:The blood sample is analyzed using NGS and Sanger sequencing to screen for mutations in over 20,000 genes.
3
After the Test:Results are typically available within 30 working days, accessible via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

To diagnose inherited skin diseases by detecting mutations in genes associated with genodermatoses, aiding in accurate diagnosis, treatment planning, and genetic counseling.

How to Prepare

  • Collect 10 mL whole blood in Lavender Top (EDTA) tubes
  • Label tubes correctly with patient details
  • Ship refrigerated within specified stability period

Doctor's Notes

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

"This test is crucial for diagnosing genetic skin disorders, aiding in early intervention and personalized treatment plans for patients with family history or symptoms."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole blood from Lavender Top (EDTA) tubes
Sample Volume10 mL (5 mL min.)
Container2 Lavender Top (EDTA) tubes
Collection MethodVenipuncture

Sample Stability

Room Temperature: 6 hours
Refrigerator (2-8°C): 72 hours
Frozen: Not applicable
Sample Rejection Criteria:
  • Hemolyzed or lipemic samples
  • Insufficient sample volume
  • Improperly labeled or unlabeled tubes
  • Samples without consent form

Understanding Your Results

Results indicate the presence or absence of pathogenic genetic variants associated with genodermatoses. Positive results confirm a genetic diagnosis, while negative results suggest no detected mutations in the analyzed genes.
📊

Positive for pathogenic variants

Confirmed genetic diagnosis of a genodermatosis, requiring specialist management and genetic counseling.

📊

Negative for pathogenic variants

No detected mutations in the analyzed genes; consider other diagnostic approaches if symptoms persist.

📊

Variant of uncertain significance (VUS)

A genetic variant was found but its clinical significance is unknown; follow-up testing or family studies may be recommended.

⚠️ When to Consult a Doctor:

Consult a dermatologist or geneticist if you have symptoms like persistent blistering, scaling, or skin discoloration, especially with a family history of skin disorders.

Limitations

  • ⚠May not detect all possible genetic mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may have variants of uncertain significance (VUS)

Risks & Considerations

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

Interfering Factors

  • ●Contaminated or improperly stored sample
  • ●Insufficient sample volume
  • ●Recent blood transfusions may affect results

Frequently Asked Questions

What is the Genodermatoses Exome Sequencing Panel Test?
It is a genetic test that analyzes the exome (protein-coding genes) to detect mutations responsible for inherited skin diseases, helping in accurate diagnosis.
What symptoms indicate the need for this test?
Symptoms such as blistering, scaling, redness, cracking, thickening of the skin, hyperpigmentation, or hypopigmentation, especially with a family history, may indicate the need.
How is the test performed?
The test involves collecting a blood sample, which is then analyzed using Next-Generation Sequencing (NGS) and Sanger sequencing to screen for genetic variants.
What is the cost of the Genodermatoses Exome Sequencing Panel Test?
The test costs INR 30,000 in India, including free home sample collection for online bookings across major cities.
Why choose DNA Labs India for this test?
DNA Labs India offers accurate and reliable genetic testing with state-of-the-art technology, expert geneticists, timely results, and nationwide home collection services.
What sample is required for the test?
A blood sample of 10 mL (5 mL min.) from 2 Lavender Top (EDTA) tubes is required, shipped refrigerated without freezing.
How long does it take to get the results?
Results are typically delivered within 30 working days via online portal, email, or WhatsApp.
Is home collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across numerous cities in India.
What genes are analyzed in this test?
The test analyzes over 20,000 genes in the exome, focusing on those associated with various inherited skin disorders.
How accurate is the test?
The test is highly sensitive and specific, utilizing advanced sequencing technologies, but accuracy depends on sample quality and genetic factors.
What should I do before the test?
Ensure the mandatory Genodermatoses Exome Sequencing Consent Form (Form 48) is duly filled and provide a blood sample as per instructions.
How are the results interpreted?
Results indicate presence or absence of pathogenic variants; positive results confirm a genetic diagnosis, while negative or VUS results require clinical correlation and possibly further testing.
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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