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COL9A3 Gene Epiphyseal dysplasia, multiple, type 3 NGS Genetic Test

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COL9A3 Gene Epiphyseal dysplasia, multiple, type 3 NGS Genetic Test

Short Name: COL9A3 Epiphyseal Dysplasia Type 3 NGS Test

Also known as: MED3, COL9A3-related epiphyseal dysplasia, Multiple epiphyseal dysplasia type 3

COL9A3 Gene Epiphyseal dysplasia, multiple, type 3 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.

NGS 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

The purpose of the COL9A3 Gene Epiphyseal Dysplasia Type 3 NGS Genetic Test is to identify pathogenic mutations in the COL9A3 gene that cause multiple epiphyseal dysplasia type 3. This aids in accurate diagnosis, confirmation of clinical suspicion, genetic counseling, family planning, and management of the condition by guiding treatment strategies and monitoring potential complications like early arthritis or skeletal abnormalities.

Test Code
2411
ICD Code
Q77.3
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

Consult with a healthcare provider or genetic counselor to discuss test implications, obtain informed consent, and provide clinical and family history. No fasting is required, but ensure adequate hydration.

Method: Venipuncture or dried blood spot collection

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm, or a dried blood spot collected via finger prick. The process is quick, typically taking a few minutes, and may cause minor discomfort.

Step 3

Report Delivery

Apply pressure to the collection site to prevent bleeding. The sample is labeled and sent to the laboratory. Resume normal activities immediately; avoid strenuous arm exercise for a few hours if blood was drawn.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Prior to testing, undergo genetic counseling to understand the implications, benefits, and limitations. Provide a detailed clinical and family history, including any known skeletal disorders.
2
During the Test:The test involves next-generation sequencing of the COL9A3 gene from a provided sample. No special procedures are required during the test itself, as it is laboratory-based.
3
After the Test:Results will be available in 3-4 weeks. Review them with a healthcare provider to discuss diagnosis, management options, and potential family implications.

About This Test

Who Should Get This Test

The purpose of the COL9A3 Gene Epiphyseal Dysplasia Type 3 NGS Genetic Test is to identify pathogenic mutations in the COL9A3 gene that cause multiple epiphyseal dysplasia type 3. This aids in accurate diagnosis, confirmation of clinical suspicion, genetic counseling, family planning, and management of the condition by guiding treatment strategies and monitoring potential complications like early arthritis or skeletal abnormalities.

How to Prepare

  • Use sterile equipment for sample collection.
  • Label the sample correctly with patient details.
  • For blood on FTA card, ensure one drop is applied and air-dried completely.
  • Store and transport samples at ambient room temperature as specified.

Doctor's Notes

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

"Early genetic diagnosis through NGS testing is essential for managing epiphyseal dysplasia, especially in families with a history of bone disorders, to guide treatment and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture or dried blood spot collection

Sample Stability

Blood samples: Stable for 24 hours at room temperature; longer if refrigerated.
Extracted DNA: Stable for several days at 2-8°C or months at -20°C.
FTA Card samples: Stable at room temperature for extended periods if kept dry.
Sample Rejection Criteria:
  • Clotted or hemolyzed blood samples
  • Insufficient sample volume
  • Unlabeled or mislabeled samples
  • Contaminated or degraded samples

Understanding Your Results

Results from the COL9A3 NGS Genetic Test indicate whether pathogenic mutations in the COL9A3 gene are detected. Interpretation should be done by a qualified geneticist or healthcare provider in the context of clinical findings and family history.
📊

Positive for pathogenic variant

Confirms diagnosis of COL9A3-related epiphyseal dysplasia type 3. Genetic counseling and family screening are recommended.

Action: Consult a geneticist for management planning and consider cascade testing in family members.

📊

Negative for pathogenic variant

No mutations in COL9A3 detected; may not rule out other genetic causes. Clinical correlation is essential.

Action: Discuss with a healthcare provider to explore other diagnostic possibilities or additional testing.

📊

Variant of uncertain significance (VUS)

A genetic variant found, but its clinical significance is unknown. Further family studies or functional analysis may be needed.

Action: Follow up with genetic counseling and periodic re-evaluation as knowledge updates.

⚠️ When to Consult a Doctor:

Consult a doctor or genetic counselor if you experience symptoms such as joint pain, short stature, or walking difficulties, or if you have a family history of epiphyseal dysplasia. After receiving test results, professional interpretation is crucial for appropriate management.

Limitations

  • ⚠This test may not detect all possible mutations in the COL9A3 gene, such as large deletions or duplications unless specifically designed.
  • ⚠Results are based on current knowledge of COL9A3 variants; novel mutations may require further validation.
  • ⚠Does not rule out other genetic causes of epiphyseal dysplasia or related disorders.
  • ⚠Genetic testing cannot predict disease severity or progression in all cases.

Risks & Considerations

  • ●Minimal risk associated with blood draw, such as slight pain, bruising, or infection at the puncture site.
  • ●No direct risks from the genetic test itself, but psychological impact of results may require counseling.

Interfering Factors

  • ●Hemolyzed or clotted blood samples
  • ●Contamination during sample collection or processing
  • ●Insufficient sample volume
  • ●DNA degradation due to improper storage

Frequently Asked Questions

What is the COL9A3 Gene Epiphyseal Dysplasia Type 3 NGS Genetic Test?
This test uses Next-Generation Sequencing to detect mutations in the COL9A3 gene, which causes multiple epiphyseal dysplasia type 3, a rare bone disorder affecting cartilage and bone development.
What are the common symptoms of this disorder?
Symptoms include short stature, joint pain and stiffness, difficulty walking, abnormal spinal curvature, early-onset arthritis, flat feet, and delayed growth in children.
How is the test performed?
A blood sample or DNA extract is collected and analyzed using NGS technology to sequence the COL9A3 gene for pathogenic variants.
What is the cost of this test in India?
The test costs INR 20000, which includes sample collection, genetic counseling, and report delivery.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across numerous cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate if pathogenic COL9A3 mutations are detected, confirming the diagnosis. Negative results may require further evaluation. Interpretation should be done by a geneticist.
Who should consider this test?
Individuals with symptoms of epiphyseal dysplasia, such as joint pain or short stature, or those with a family history of the disorder, should consider testing after consulting a healthcare provider.
Are there any risks associated with the test?
The test itself has minimal risks, mainly related to blood draw, like bruising. Psychological impact of results may necessitate genetic counseling.
What preparation is needed before the test?
No fasting is required. Consult with a genetic counselor for informed consent and provide clinical and family history details.
Can this test be used for prenatal diagnosis?
This specific test is for postnatal diagnosis. For prenatal testing, consult a genetic counselor for appropriate options.
Is the test covered by insurance in India?
Coverage varies by insurance provider. It is not universally covered, so check with your insurer or government schemes like PMJAY or CGHS for eligibility.
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.

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