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ADAMTSL2 Gene Geleophysic dysplasia type 1 NGS Genetic Test

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ADAMTSL2 Gene Geleophysic dysplasia type 1 NGS Genetic Test

Short Name: ADAMTSL2 Gene Geleophysic Dysplasia Type 1 NGS Test

Also known as: Geleophysic dysplasia type 1 genetic test, ADAMTSL2 mutation analysis, Geleophysic dysplasia NGS test

ADAMTSL2 Gene Geleophysic dysplasia 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 to 4 weeks from sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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 Geleophysic dysplasia type 1 by identifying mutations in the ADAMTSL2 gene and to identify carriers for family planning and genetic counseling.

Test Code
4943
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 weeks from sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Provide clinical history and undergo genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities.

Timeline: 3 to 4 weeks from sample receipt.

Patient Instructions

1
Before the Test:Genetic counseling session to discuss implications and draw a pedigree chart.
2
During the Test:Blood sample collection and DNA extraction for NGS analysis.
3
After the Test:Results reviewed by genetic counselors and reported to the physician.

About This Test

Who Should Get This Test

To diagnose Geleophysic dysplasia type 1 by identifying mutations in the ADAMTSL2 gene and to identify carriers for family planning and genetic counseling.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment
  • Label the sample correctly

Doctor's Notes

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

"Genetic testing for ADAMTSL2 mutations is crucial for early diagnosis and management of Geleophysic dysplasia type 1, aiding in personalized care and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume5 ml
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Room temperature24 hours
Refrigerated72 hours
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the ADAMTSL2 gene. A positive result confirms Geleophysic dysplasia type 1 or carrier status.
📊

Pathogenic variant detected

Confirms diagnosis of Geleophysic dysplasia type 1 or carrier status. Genetic counseling recommended.

📊

No pathogenic variant detected

Reduces likelihood of Geleophysic dysplasia type 1 due to ADAMTSL2 mutations. Clinical correlation advised.

⚠️ When to Consult a Doctor:

If symptoms such as short stature, joint stiffness, or distinctive facial features are present, or if there is a family history of Geleophysic dysplasia.

Limitations

  • ⚠May not detect all possible mutations
  • ⚠Variants of uncertain significance may be identified
  • ⚠Does not rule out other genetic disorders

Risks & Considerations

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

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during collection
  • ●Insufficient DNA quantity

Compare With Similar Tests

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ComparisonADAMTSL2 Gene Geleophysic dysplasia type 1 NGS Genetic Test

Frequently Asked Questions

What is the ADAMTSL2 Gene Geleophysic Dysplasia Type 1 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to identify mutations in the ADAMTSL2 gene, which causes Geleophysic dysplasia type 1.
What is the cost of this test?
The cost is INR 20000, which includes DNA sequencing, analysis, and genetic counseling.
What sample is required for the test?
A blood sample of approximately 5 ml is required, collected via venipuncture.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
What are the indications for this test?
Indications include short stature, joint stiffness, distinctive facial features, heart or lung problems, family history, or suspected connective tissue disorder.
Can this test identify carriers of the mutation?
Yes, the test can identify carriers of ADAMTSL2 mutations, which is important for family planning.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
What does a positive result mean?
A positive result indicates the presence of a pathogenic variant in the ADAMTSL2 gene, confirming Geleophysic dysplasia type 1 or carrier status.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw, but genetic results may have psychological implications.
How should I prepare for the test?
No specific preparation is needed, but a genetic counseling session is recommended before testing.
What if the test result is negative?
A negative result reduces the likelihood of Geleophysic dysplasia type 1 due to ADAMTSL2 mutations, but clinical correlation is advised.
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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