PDE6D Gene Joubert syndrome type 22 NGS Genetic Test
Short Name: PDE6D Joubert Syndrome Type 22 Test
Also known as: PDE6D-related Joubert syndrome, Joubert syndrome type 22 genetic test
PDE6D Gene Joubert syndrome type 22 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the PDE6D Gene Joubert Syndrome Type 22 NGS Genetic Test is to confirm a clinical diagnosis of Joubert Syndrome Type 22 by identifying pathogenic mutations in the PDE6D gene. This test aids in differentiating it from other genetic disorders, guides treatment strategies, and provides information for genetic counseling and family risk assessment.
- Test Code
- 1646
- 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
- NGS Technology
Sample Collection
No specific preparation is required. Provide clinical history and family pedigree chart as advised during genetic counseling.
Method: Venipuncture or Cheek Swab
Laboratory Analysis
A blood sample is collected via venipuncture or a cheek swab is taken. The process is quick and minimally invasive.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities immediately.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the PDE6D Gene Joubert Syndrome Type 22 NGS Genetic Test is to confirm a clinical diagnosis of Joubert Syndrome Type 22 by identifying pathogenic mutations in the PDE6D gene. This test aids in differentiating it from other genetic disorders, guides treatment strategies, and provides information for genetic counseling and family risk assessment.
How to Prepare
- Ensure sample is collected in a sterile environment
- Use appropriate collection tubes (e.g., EDTA for blood)
- Label sample correctly with patient details
- Transport sample at ambient temperature as specified
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for PDE6D is crucial for confirming Joubert Syndrome Type 22, enabling early intervention and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Sample hemolysis or clotting
- Incorrect labeling or container
- Sample received after stability period
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Joubert Syndrome Type 22; genetic counseling recommended
Variant of uncertain significance (VUS)
Further clinical evaluation and family studies may be needed
No pathogenic variant detected
PDE6D-related Joubert syndrome unlikely; consider testing for other genes
Consult a neurologist or geneticist if symptoms such as hypotonia, ataxia, or developmental delays are present, especially with a family history of Joubert syndrome. After receiving test results, discuss implications with a healthcare provider for management and counseling.
Limitations
- ⚠This test only detects mutations in the PDE6D gene; other genes involved in Joubert syndrome are not analyzed
- ⚠May not detect epigenetic changes or large structural variants not covered by NGS
- ⚠Results require correlation with clinical findings for definitive diagnosis
Risks & Considerations
- ●Minimal risk from blood draw, such as slight pain or bruising
- ●Psychological impact of genetic testing results
- ●Potential for uncertain results requiring further testing
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Inadequate sample volume
- ●Hemolyzed blood samples
Compare With Similar Tests
| Test | PDE6D Gene Joubert syndrome type 22 NGS Genetic Test | AHI1 Gene Test | CEP290 Gene Test | TMEM67 Gene Test | CC2D2A Gene Test |
|---|---|---|---|---|---|
| Comparison | PDE6D Gene Joubert syndrome type 22 NGS Genetic Test |
Frequently Asked Questions
What is Joubert Syndrome Type 22?
Who should get the PDE6D Gene test?
What sample is required for the test?
How accurate is the NGS Genetic Test?
What does a positive result mean?
Is genetic counseling included?
How long does it take to get results?
Is home sample collection available?
What are the risks of the test?
Can this test detect other types of Joubert syndrome?
What should I do after receiving results?
Is the test covered by insurance?
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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.
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