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COMP Gene Pseudoachondroplasia NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

COMP Gene Pseudoachondroplasia NGS Genetic Test

Short Name: COMP Gene Test

Also known as: COMP Gene Mutation Test, Pseudoachondroplasia Genetic Test, COMP Sequencing Test

COMP Gene Pseudoachondroplasia 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

To diagnose pseudoachondroplasia by detecting pathogenic mutations in the COMP gene using NGS technology, aiding in clinical management and genetic counseling.

Test Code
5113
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. Provide clinical history and family pedigree if available.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or finger prick. Ensure proper labeling and handling.

Step 3

Report Delivery

Apply pressure to the puncture site. Store sample as instructed and transport to the lab promptly.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss implications, family history, and test process.
2
During the Test:Sample collection procedure as per instructions; minimal discomfort.
3
After the Test:Wait for results (3-4 weeks); follow-up with healthcare provider for interpretation and management.

About This Test

Who Should Get This Test

To diagnose pseudoachondroplasia by detecting pathogenic mutations in the COMP gene using NGS technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Fast for 4-6 hours if specified, though not typically required
  • Avoid strenuous activity before collection
  • Bring identification and prescription if applicable

Doctor's Notes

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

"Early genetic diagnosis of pseudoachondroplasia allows for timely intervention and management of symptoms, improving quality of life for affected individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL blood or as required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods at appropriate temperatures
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of mutations in the COMP gene linked to pseudoachondroplasia. Positive results confirm diagnosis, while negative results may require further testing.
📊

Positive for pathogenic variant

Confirms diagnosis of pseudoachondroplasia. Genetic counseling recommended.

📊

Negative for pathogenic variant

No mutation detected. Clinical correlation and additional tests may be needed.

📊

Variant of uncertain significance

Further analysis and family studies recommended.

⚠️ When to Consult a Doctor:

If symptoms such as short stature or joint issues persist, or if there is a family history of pseudoachondroplasia, consult a geneticist or pediatrician for evaluation and testing.

Limitations

  • ⚠May not detect all genetic variants or mosaicism
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not suitable for prenatal diagnosis without additional validation

Risks & Considerations

  • ●Minor bruising or pain at blood draw site
  • ●Rare risk of infection
  • ●Psychological impact of results

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Improper sample storage or handling
  • ●Recent blood transfusion

Compare With Similar Tests

TestCOMP Gene Pseudoachondroplasia NGS Genetic TestAchondroplasia Genetic TestSkeletal Dysplasia PanelCOMP Gene Deletion/Duplication Analysis
ComparisonCOMP Gene Pseudoachondroplasia NGS Genetic TestTargets FGFR3 gene; different skeletal disorder.Includes multiple genes; broader scope but higher cost.Detects large deletions/duplications; complementary to NGS.

Frequently Asked Questions

What is the COMP Gene Pseudoachondroplasia NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the COMP gene, which causes pseudoachondroplasia, a rare skeletal disorder.
Who should consider taking this test?
Individuals with symptoms like disproportionate short stature, joint pain, or a family history of pseudoachondroplasia should consider this test.
What are the common symptoms of pseudoachondroplasia?
Symptoms include short stature, abnormally proportioned limbs, joint pain and stiffness, joint laxity, scoliosis, and early-onset osteoarthritis.
How is the test performed?
A blood or DNA sample is collected and analyzed using NGS technology to identify mutations in the COMP gene.
What is the cost of the test?
The test costs INR 20,000, with free home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result confirms the presence of a COMP gene mutation, indicating pseudoachondroplasia. Genetic counseling is recommended.
Is genetic counseling required before the test?
Yes, a genetic counseling session is recommended to understand the test implications and interpret results.
Are there any risks associated with the test?
Risks are minimal, such as minor bruising from blood draw. Psychological impact of results should be considered.
How accurate is the test?
The test uses NGS technology, which is highly accurate for detecting mutations, but no test is 100% foolproof.
Can this test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis. Prenatal testing may require specialized procedures and genetic counseling.
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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