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PDE4D Gene Acrodysostosis 2 NGS Genetic Test

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PDE4D Gene Acrodysostosis 2 NGS Genetic Test

PDE4D Gene Acrodysostosis 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Extracted DNA, or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)🏠 Home Collection

🩺 Medically Reviewed By

Overview

To identify mutations in the PDE4D gene for diagnosis of Acrodysostosis 2, guiding clinical management and genetic counseling.

Test Code
4810
Price
₹20,000
Sample Type
Blood, 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 family members affected with Acrodysostosis 2.

Method: Venipuncture or FTA card

Step 2

Laboratory Analysis

Your sample is analyzed using Next-Generation Sequencing (NGS) 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 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review.
2
During the Test:Blood sample collection or DNA extraction.
3
After the Test:Results analysis and genetic counseling follow-up.

About This Test

Who Should Get This Test

To identify mutations in the PDE4D gene for diagnosis of Acrodysostosis 2, guiding clinical management and genetic counseling.

How to Prepare

  • Blood sample: Standard venipuncture procedure
  • FTA card: One drop of blood applied to the card
  • Extracted DNA: Provided in appropriate buffer

Doctor's Notes

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

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA card

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the PDE4D gene.
📊

Positive for pathogenic variant

Confirms diagnosis of Acrodysostosis 2; genetic counseling recommended.

📊

Negative for pathogenic variant

No mutation detected; clinical correlation and further testing may be considered.

⚠️ When to Consult a Doctor:

Consult a genetic specialist or physician if symptoms suggestive of Acrodysostosis 2 are present, or after receiving test results for management and counseling.

Risks & Considerations

  • Minimal risks from blood draw, such as bruising or infection

Frequently Asked Questions

What is Acrodysostosis 2?
Acrodysostosis 2 is a rare genetic disorder caused by mutations in the PDE4D gene, leading to bone growth abnormalities, short stature, and other symptoms.
What causes Acrodysostosis 2?
It is caused by mutations in the PDE4D gene, which affects enzyme activity regulating hormones involved in bone development.
What are the symptoms of Acrodysostosis 2?
Symptoms include short stature, short fingers and toes, skeletal abnormalities, intellectual disability, and hearing loss.
How is Acrodysostosis 2 diagnosed?
Diagnosis involves genetic testing using next-generation sequencing (NGS) to identify mutations in the PDE4D gene.
What is the PDE4D gene?
The PDE4D gene provides instructions for making an enzyme that regulates hormone activity, and mutations can lead to Acrodysostosis 2.
What is NGS genetic testing?
Next-generation sequencing (NGS) is a advanced DNA sequencing technology that allows rapid and accurate analysis of multiple genes simultaneously.
How much does the PDE4D Gene Acrodysostosis 2 NGS Genetic Test cost?
The test costs INR 20000 at DNA Labs India, with free home sample collection available.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What should I do before the test?
Provide clinical history and attend a genetic counseling session to draw a family pedigree chart.
What do the test results mean?
Positive results confirm a mutation in the PDE4D gene, indicating Acrodysostosis 2; negative results mean no mutation detected.
Is genetic counseling available?
Yes, genetic counseling is recommended before and after testing to discuss results, implications, and management options.
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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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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