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GNPAT Gene Rhizomelic chondrodysplasia punctata type 2 NGS Genetic Test

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GNPAT Gene Rhizomelic chondrodysplasia punctata type 2 NGS Genetic Test

Short Name: GNPAT Gene RCDP2 NGS Test

Also known as: Rhizomelic chondrodysplasia punctata type 2, RCDP2, GNPAT-related disorder

GNPAT Gene Rhizomelic chondrodysplasia punctata 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.

NGS Genetic TestPediatric🏠 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 GNPAT Gene RCDP2 NGS Genetic Test is to accurately diagnose Rhizomelic chondrodysplasia punctata type 2 by detecting mutations in the GNPAT gene. This aids in confirming clinical suspicion, guiding treatment strategies, facilitating genetic counseling, and informing family planning decisions.

Test Code
2794
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

Provide clinical history and undergo genetic counseling to draw a pedigree chart. No fasting required.

Method: Venipuncture or FTA card spotting

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture or a drop of blood on an FTA card by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store sample as per instructions for stability.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to discuss family history and obtain informed consent. No special preparation is needed.
2
During the Test:The test involves a simple blood draw or FTA card sample collection, which is quick and minimally invasive.
3
After the Test:Results will be available in 3-4 weeks. Follow up with your healthcare provider for result interpretation and next steps.

About This Test

Who Should Get This Test

The purpose of the GNPAT Gene RCDP2 NGS Genetic Test is to accurately diagnose Rhizomelic chondrodysplasia punctata type 2 by detecting mutations in the GNPAT gene. This aids in confirming clinical suspicion, guiding treatment strategies, facilitating genetic counseling, and informing family planning decisions.

How to Prepare

  • Ensure proper identification and labeling of the sample
  • Use sterile collection tubes or FTA cards
  • Transport sample at ambient room temperature to the lab promptly

Doctor's Notes

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

"Early genetic testing for RCDP2 is crucial for accurate diagnosis, management, and informed family planning. Consult a genetic counselor for personalized guidance."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card spotting

Sample Stability

Blood in EDTA tube: stable for 7 days at 2-8°C
FTA card: stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Incorrectly labeled or insufficient sample volume
  • Samples collected without proper consent or documentation

Understanding Your Results

Results from the GNPAT Gene RCDP2 NGS Genetic Test indicate the presence or absence of pathogenic mutations in the GNPAT gene. A positive result confirms a diagnosis of RCDP2, while a negative result may require further clinical evaluation.
📊

Positive for pathogenic mutation

Confirms diagnosis of Rhizomelic chondrodysplasia punctata type 2. Genetic counseling and management planning recommended.

📊

Negative for pathogenic mutation

No mutations detected in the GNPAT gene. Clinical correlation and additional testing may be needed if symptoms persist.

📊

Variant of uncertain significance (VUS)

A genetic variant was found but its clinical significance is unknown. Follow-up testing and family studies may be advised.

⚠️ When to Consult a Doctor:

Consult a doctor or genetic counselor if you suspect RCDP2 symptoms, have a family history of the disorder, or after receiving test results for interpretation and management.

Limitations

  • ⚠May not detect all possible genetic variants or mutations in non-coding regions
  • ⚠Results require interpretation by a qualified geneticist or healthcare provider
  • ⚠Does not assess for other genetic disorders unless specified

Risks & Considerations

  • ●Minimal risk associated with blood draw, such as slight pain, bruising, or infection at the puncture site

Interfering Factors

  • ●Sample contamination or degradation
  • ●Insufficient DNA quantity or quality
  • ●Recent blood transfusion may affect results

Frequently Asked Questions

What is the GNPAT Gene RCDP2 NGS Genetic Test?
It is a next-generation sequencing test that analyzes the GNPAT gene to diagnose Rhizomelic chondrodysplasia punctata type 2, a rare genetic disorder affecting skeletal development and causing intellectual disability.
Who should consider this test?
Individuals showing symptoms of RCDP2 such as abnormal facial features, delayed growth, skeletal abnormalities, epilepsy, vision problems, or poor muscle tone, especially in infancy, and those with a family history of the disorder.
What is the cost of the test?
The test costs INR 20000.0, which includes sample collection, genetic analysis, and report generation.
How is the sample collected?
A blood sample is collected via venipuncture or a drop of blood on an FTA card. Home collection is available across India.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results indicate?
Results show whether pathogenic mutations in the GNPAT gene are detected. A positive result confirms RCDP2, while a negative result may require further evaluation.
Is genetic counseling provided?
Yes, DNA Labs India offers a genetic counseling session to draw a pedigree chart and discuss test implications as part of the service.
Can this test be done for prenatal diagnosis?
This test is typically for postnatal diagnosis. For prenatal testing, consult a genetic specialist for appropriate options.
What are the risks of the test?
The test involves minimal risks, primarily related to blood draw, such as slight pain or bruising. There are no significant genetic risks from the test itself.
Is the test covered by insurance?
Coverage depends on your insurance plan. It is not typically covered under government schemes like PMJAY or CGHS, but check with your provider.
How accurate is the NGS genetic test?
NGS technology is highly accurate for detecting mutations in the GNPAT gene, but no test is 100% foolproof. Results should be interpreted by a qualified geneticist.
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

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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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