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XYLT1 Gene Desbuquois dysplasia type 2 NGS Genetic Test

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XYLT1 Gene Desbuquois dysplasia type 2 NGS Genetic Test

Short Name: XYLT1 Gene Desbuquois Dysplasia Type 2 NGS Test

Also known as: XYLT1 Gene Sequencing, Desbuquois Dysplasia Type 2 Genetic Test, XYLT1 Mutation Analysis

XYLT1 Gene Desbuquois dysplasia type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) 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.

PediatricsPediatric🏠 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 identify mutations in the XYLT1 gene for diagnosing Desbuquois Dysplasia Type 2, a rare genetic disorder affecting bone growth. It aids in confirming the condition, guiding management, and providing genetic counseling.

Test Code
2717
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members are required.

Method: Venipuncture for blood sample or FTA card for one drop blood

Step 2

Laboratory Analysis

Blood sample is drawn via venipuncture or one drop of blood is collected on an FTA card.

Step 3

Report Delivery

The sample is sent to the laboratory for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and review of clinical history are essential before sample collection.
2
During the Test:Sample collection is performed, and the sample is processed for NGS analysis.
3
After the Test:Results are generated and delivered, followed by consultation for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the XYLT1 gene for diagnosing Desbuquois Dysplasia Type 2, a rare genetic disorder affecting bone growth. It aids in confirming the condition, guiding management, and providing genetic counseling.

How to Prepare

  • Provide detailed clinical history
  • Attend genetic counseling session
  • Ensure sample is collected as per method (blood or FTA card)

Doctor's Notes

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

"This test is crucial for early diagnosis and management of Desbuquois Dysplasia Type 2 in pediatric patients, aiding in genetic counseling and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture for blood sample or FTA card for one drop blood
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or contaminated blood sample

Understanding Your Results

Results indicate the presence or absence of mutations in the XYLT1 gene, which are associated with Desbuquois Dysplasia Type 2.
📊

Positive

Mutation detected in XYLT1 gene, consistent with Desbuquois Dysplasia Type 2. Genetic counseling recommended.

📊

Negative

No pathogenic mutation detected in XYLT1 gene. Clinical correlation advised.

📊

Variant of Uncertain Significance

A genetic variant was found but its clinical significance is unknown. Further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

If symptoms of Desbuquois Dysplasia Type 2 are present, such as short stature or skeletal abnormalities, or for family planning if there is a family history of the disorder.

Limitations

  • ⚠May not detect all genetic variants; genetic counseling is recommended for interpretation.
  • ⚠Results should be correlated with clinical findings.

Risks & Considerations

  • ●Minimal risk associated with blood draw, such as bruising or infection.
  • ●Genetic implications for family members may require counseling.

Frequently Asked Questions

What is Desbuquois Dysplasia Type 2?
Desbuquois Dysplasia Type 2 is a rare genetic disorder that affects bone growth, caused by mutations in the XYLT1 gene.
What causes Desbuquois Dysplasia Type 2?
It is caused by mutations in the XYLT1 gene, which provides instructions for making the enzyme xylosyltransferase 1, essential for bone and cartilage formation.
What are the common symptoms?
Symptoms include short stature, joint pain and stiffness, abnormal curvature of the spine, abnormalities in hands and feet, and facial abnormalities.
How is Desbuquois Dysplasia Type 2 diagnosed?
Diagnosis involves physical examination, X-rays, and genetic testing such as the XYLT1 Gene NGS Genetic Test.
What is the XYLT1 gene?
The XYLT1 gene provides instructions for making xylosyltransferase 1, an enzyme crucial for building bones and cartilage.
What is NGS genetic testing?
Next-generation sequencing (NGS) is a powerful technology that can identify mutations in genes like XYLT1 from a small sample of blood or saliva.
How is the test performed?
The test is performed using a blood sample or extracted DNA, analyzed via NGS to detect mutations in the XYLT1 gene.
What is the cost of the XYLT1 Gene Desbuquois Dysplasia Type 2 NGS Genetic Test?
The cost in India is INR 20,000, with free home sample collection available.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
What do the results mean?
Results indicate whether mutations in the XYLT1 gene are detected, which can confirm Desbuquois Dysplasia Type 2. Genetic counseling is recommended for interpretation.
Who should consider this test?
Individuals with symptoms of Desbuquois Dysplasia Type 2, such as short stature or skeletal abnormalities, or those with a family history of the disorder, should consider this test.
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

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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.

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