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ADAM17 Gene Inflammatory skin and bowel disease, neonatal, type 1 NGS Genetic Test

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ADAM17 Gene Inflammatory skin and bowel disease, neonatal, type 1 NGS Genetic Test

Short Name: ADAM17 Gene Test

Also known as: TNF-alpha converting enzyme (TACE) gene test, ADAM17 mutation analysis

ADAM17 Gene Inflammatory skin and bowel disease, neonatal, type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in 3-4 weeks. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS) Genetic TestNeonatal and Infant🏠 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

The purpose of this test is to detect mutations in the ADAM17 gene to diagnose inflammatory skin and bowel disease in neonates and infants, enabling early intervention, personalized treatment, and genetic counseling for families.

Test Code
5034
Price
₹20,000
Sample Type
Blood
Result Time
3-4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. Ensure patient identification and informed consent are obtained.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture by a trained phlebotomist using sterile techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store the sample at ambient room temperature as per instructions.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to discuss the implications, benefits, and limitations of the test.
2
During the Test:A blood sample will be collected from the patient via venipuncture.
3
After the Test:Wait for the report as per the turnaround time and follow up with a healthcare provider for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the ADAM17 gene to diagnose inflammatory skin and bowel disease in neonates and infants, enabling early intervention, personalized treatment, and genetic counseling for families.

How to Prepare

  • Fasting is not required for this test
  • Avoid hemolysis during blood collection
  • Label the sample correctly with patient details

Doctor's Notes

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

"This test is crucial for early diagnosis of neonatal inflammatory conditions, allowing for timely intervention and management to improve patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume5 mL
ContainerEDTA vacutainer
Collection MethodVenipuncture

Sample Stability

Stable at room temperature for up to 24 hours
Refrigerate at 2-8°C if analysis is delayed beyond 24 hours
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improper labeling or missing patient information

Understanding Your Results

Interpretation of results should be performed by a qualified geneticist or healthcare provider in the context of clinical findings and family history.
Positive: Pathogenic variant detected in the ADAM17 gene, indicating increased risk for inflammatory skin and bowel disease. Further clinical evaluation and management are recommended.
Negative: No pathogenic variants detected, but this does not exclude other genetic or non-genetic causes of symptoms.
Variant of Uncertain Significance (VUS): A genetic change was found, but its clinical significance is unknown. Additional testing or family studies may be needed.
⚠️ When to Consult a Doctor:

Consult a doctor if symptoms persist or worsen, if there is a family history of inflammatory conditions, or if genetic counseling is needed to understand test results.

Limitations

  • ⚠May not detect all mutations in the ADAM17 gene
  • ⚠Does not rule out other genetic or environmental causes of disease
  • ⚠Results require clinical correlation and genetic counseling

Risks & Considerations

  • ●Minimal risk associated with blood draw, such as bruising or infection
  • ●Potential psychological impact of test results on patients and families

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestADAM17 Gene Inflammatory skin and bowel disease, neonatal, type 1 NGS Genetic TestWhole Exome SequencingInflammatory Bowel Disease Panel
ComparisonADAM17 Gene Inflammatory skin and bowel disease, neonatal, type 1 NGS Genetic Test

Frequently Asked Questions

What is the ADAM17 gene and its function?
The ADAM17 gene, also known as TNF-alpha converting enzyme (TACE), encodes a protein that regulates inflammation and cell signaling by cleaving cell-surface proteins like TNF-alpha, EGFR, and IL-6R.
What diseases are caused by ADAM17 gene mutations?
Mutations in the ADAM17 gene are associated with inflammatory skin and bowel diseases, including psoriasis, inflammatory bowel disease (IBD), and hidradenitis suppurativa (HS), particularly in neonates.
How is the ADAM17 Gene Test performed?
The test uses next-generation sequencing (NGS) technology to analyze the entire coding region of the ADAM17 gene from a blood sample, detecting mutations accurately.
Who should consider getting this genetic test?
Newborns or infants with symptoms of inflammatory skin or bowel disease, those with a family history of such conditions, or individuals suspected of carrying ADAM17 mutations should consider this test.
What does a positive test result indicate?
A positive result means a pathogenic variant in the ADAM17 gene was detected, indicating an increased risk for inflammatory skin and bowel disease. Clinical correlation and genetic counseling are recommended.
Is the test painful or risky?
The test involves a standard blood draw, which may cause minor discomfort or bruising. Risks are minimal, but psychological impact of results should be considered.
How long does it take to receive the test results?
Results are typically available within 3-4 weeks after sample collection.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
What is the cost of the ADAM17 Gene Test?
The test costs INR 20000, which includes sample collection, analysis, and report generation.
Is the test covered by health insurance or government schemes?
Coverage varies; it is not typically covered by government schemes like PMJAY or CGHS, but private insurance may cover it depending on the policy. Check with your provider.
Can this test be performed during pregnancy or on adults?
The test is primarily designed for neonates and infants, but it can be performed on adults if indicated. Consult a geneticist for guidance.
What are the limitations of the ADAM17 Gene Test?
Limitations include potential failure to detect all mutations, inability to rule out other genetic causes, and the need for clinical correlation. Results should be interpreted by a qualified professional.
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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