PRKAR1A Gene Acrodysostosis type 1, with or without hormone resistance NGS Genetic Test
Short Name: PRKAR1A Acrodysostosis NGS Test
PRKAR1A Gene Acrodysostosis type 1, with or without hormone resistance 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.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect mutations in the PRKAR1A gene to confirm a diagnosis of acrodysostosis type 1, assess the risk of hormone resistance, guide treatment decisions, and facilitate genetic counseling for affected individuals and families.
- Test Code
- 5638
- 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)
Sample Collection
Provide clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with acrodysostosis type 1.
Method: Venipuncture
Laboratory Analysis
A blood sample is collected via venipuncture, or a saliva sample may be used. For FTA card, one drop of blood is applied.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Store samples as per instructions for stability.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the PRKAR1A gene to confirm a diagnosis of acrodysostosis type 1, assess the risk of hormone resistance, guide treatment decisions, and facilitate genetic counseling for affected individuals and families.
How to Prepare
- Fast for 8-12 hours if required, though not mandatory for this test
- Bring identification and prescription
- Inform about any medications or recent procedures
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"This NGS genetic test is essential for diagnosing acrodysostosis type 1, a rare disorder affecting bone growth and development, and helps in guiding personalized treatment and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or insufficient sample
- Incorrect labeling
- Contaminated samples
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of acrodysostosis type 1; genetic counseling recommended.
No pathogenic variant detected
Acrodysostosis type 1 unlikely; consider other diagnoses or repeat testing if symptoms persist.
Variant of uncertain significance
Further evaluation and family studies may be needed for clarification.
Consult a doctor if symptoms such as short stature, bone abnormalities, developmental delays, or hormonal issues are present, especially with a family history of similar conditions.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or duplications
- ⚠Results require clinical correlation and genetic counseling
- ⚠Does not rule out other genetic disorders with similar symptoms
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Poor sample quality
- ●Contamination during collection
- ●Recent blood transfusions
Frequently Asked Questions
What is the PRKAR1A Gene Acrodysostosis Type 1 NGS Genetic Test?
Why is this test recommended?
What sample is required for the test?
Is fasting required before the test?
How long does it take to get results?
What is the cost of the test?
Is home sample collection available?
What does a positive result mean?
Are there any risks associated with the test?
Can this test detect all mutations?
Do I need genetic counseling before testing?
What should I do after receiving results?
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₹20,000Reference 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.
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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