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AGPS Gene Rhizomelic chondrodysplasia punctata type 3 NGS Genetic Test

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AGPS Gene Rhizomelic chondrodysplasia punctata type 3 NGS Genetic Test

Short Name: AGPS Gene RCDP3 NGS Test

Also known as: RCDP3, Rhizomelic chondrodysplasia punctata type 3

AGPS Gene Rhizomelic chondrodysplasia punctata type 3 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) on Blood samples. Results in 3-4 weeks. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of the AGPS Gene Rhizomelic chondrodysplasia punctata type 3 NGS Genetic Test is to diagnose RCDP3 by identifying mutations in the AGPS gene, enabling early intervention, genetic counseling, and personalized management for affected individuals and their families.

Test Code
2781
Price
₹20,000
Sample Type
Blood
Result Time
3-4 weeks
Fasting Required
No
Method
NGS (Next-Generation Sequencing)
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with RCDP3 or AGPS gene mutations.

Step 2

Laboratory Analysis

Your sample is analyzed using NGS (Next-Generation Sequencing) in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss family history and obtain informed consent. Provide clinical history of the patient.
2
During the Test:Blood sample collection via venipuncture.
3
After the Test:Sample sent for NGS analysis. Results available in 3-4 weeks with genetic counseling for interpretation.

About This Test

Who Should Get This Test

The purpose of the AGPS Gene Rhizomelic chondrodysplasia punctata type 3 NGS Genetic Test is to diagnose RCDP3 by identifying mutations in the AGPS gene, enabling early intervention, genetic counseling, and personalized management for affected individuals and their families.

How to Prepare

  • Ensure proper sample labeling with patient details
  • Follow aseptic techniques during blood collection
  • Store and transport sample at ambient room temperature

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic testing for RCDP3 is crucial for timely intervention, management of symptoms, and genetic counseling for families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood

Understanding Your Results

Results from the AGPS Gene RCDP3 NGS Genetic Test indicate the presence or absence of pathogenic mutations in the AGPS gene. A positive result confirms a diagnosis of RCDP3, while a negative result suggests no detectable mutations, though clinical correlation is advised.
📊

Positive for pathogenic AGPS mutation

Confirms diagnosis of RCDP3. Genetic counseling and further clinical evaluation recommended.

📊

Negative for pathogenic AGPS mutation

No detectable mutations in the AGPS gene. Consider other genetic or clinical causes if symptoms persist.

📊

Variant of uncertain significance (VUS)

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

⚠️ When to Consult a Doctor:

Consult a doctor if an individual exhibits symptoms such as short stature, skeletal abnormalities, intellectual disability, vision or hearing problems, seizures, or respiratory issues, especially with a family history of RCDP3.

Risks & Considerations

  • ●Minor bruising or discomfort at the blood collection site
  • ●Rare risk of infection or hematoma

Frequently Asked Questions

What is Rhizomelic chondrodysplasia punctata type 3 (RCDP3)?
RCDP3 is a rare genetic disorder caused by mutations in the AGPS gene, leading to skeletal abnormalities, intellectual disability, and sensory impairments.
What causes RCDP3?
RCDP3 is caused by mutations in the AGPS gene, which is essential for plasmalogen production, a type of fat important for cellular function.
What are the symptoms of RCDP3?
Symptoms include short stature, abnormal bone growth, intellectual disability, vision and hearing problems, seizures, and respiratory issues, often evident at birth or in early infancy.
How is RCDP3 diagnosed?
RCDP3 is diagnosed through genetic testing, such as the AGPS Gene NGS test, along with clinical evaluation, X-rays, and sensory tests.
What is the AGPS Gene NGS Genetic Test?
It is a Next-Generation Sequencing test that detects mutations in the AGPS gene to confirm a diagnosis of RCDP3.
How much does the AGPS Gene test cost?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get the test results?
Results are typically available within 3-4 weeks after sample collection.
What should I do before the test?
A genetic counseling session is recommended to discuss family history and obtain informed consent. Provide clinical history of the patient.
Is the test covered by insurance?
Coverage depends on the insurance provider and policy. It is advisable to check with your insurer directly.
Can this test be used for prenatal diagnosis?
Prenatal testing may be possible through specialized genetic counseling, but this test is typically postnatal. Consult a genetic specialist for options.
What are the treatment options for RCDP3?
There is no cure for RCDP3, but management focuses on symptom relief, physical therapy, and supportive care. Early diagnosis aids in planning interventions.
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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