RPGRIP1L Gene Joubert syndrome type 7 NGS Genetic Test
Short Name: RPGRIP1L Gene Joubert Syndrome Type 7 Test
Also known as: Joubert Syndrome Type 7 Genetic Test, RPGRIP1L Mutation Analysis, Joubert Syndrome Genetic Test
RPGRIP1L Gene Joubert syndrome type 7 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 RPGRIP1L Gene Joubert Syndrome Type 7 NGS Genetic Test is to confirm a diagnosis of Joubert Syndrome Type 7 by identifying mutations in the RPGRIP1L gene. This test aids in early detection, guiding clinical management, facilitating genetic counseling for families, and informing prognosis. It is recommended for individuals showing symptoms of the disorder or with a family history of Joubert Syndrome.
- Test Code
- 1650
- 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. Ensure a clinical history and family pedigree are available for genetic counseling.
Method: Venipuncture or FTA Card
Laboratory Analysis
A blood sample is drawn by a trained phlebotomist using venipuncture, or a drop of blood is collected on an FTA card.
Report Delivery
Apply pressure to the puncture site to stop bleeding. Store the sample as instructed for transport to the lab.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the RPGRIP1L Gene Joubert Syndrome Type 7 NGS Genetic Test is to confirm a diagnosis of Joubert Syndrome Type 7 by identifying mutations in the RPGRIP1L gene. This test aids in early detection, guiding clinical management, facilitating genetic counseling for families, and informing prognosis. It is recommended for individuals showing symptoms of the disorder or with a family history of Joubert Syndrome.
How to Prepare
- Use aseptic technique during blood collection
- Label samples accurately with patient details
- For FTA cards, ensure proper air drying before storage
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for Joubert Syndrome Type 7 can guide management, inform family planning, and connect patients with specialized care."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or insufficient sample volume
- Incorrectly labeled or contaminated samples
- Samples without proper documentation
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Joubert Syndrome Type 7; genetic counseling recommended
No pathogenic variant detected
Reduces likelihood of Joubert Syndrome Type 7; clinical correlation and other tests may be considered
Variant of uncertain significance
Further testing or family studies may be required for clarification
Consult a geneticist or neurologist if symptoms such as abnormal breathing, developmental delay, or ataxia are present, or for family planning if there is a known family history of Joubert Syndrome.
Limitations
- ⚠May not detect all possible genetic variants or mosaicism
- ⚠Results require interpretation by a genetic counselor or specialist
- ⚠Does not rule out other genetic causes of similar symptoms
Risks & Considerations
- ●Minor bruising or soreness at the blood draw site
- ●Rare risk of infection
- ●Emotional impact of genetic results; counseling provided
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Improper sample storage or handling
- ●Hemolyzed blood specimens
Frequently Asked Questions
What is Joubert Syndrome Type 7?
How is the RPGRIP1L Gene Test performed?
What is the cost of the test in India?
How long does it take to get results?
Is home sample collection available?
What are the common symptoms of Joubert Syndrome Type 7?
How accurate is the NGS Genetic Test?
Who should consider getting tested?
What is the turnaround time for the test?
Are there any risks associated with the test?
How do I prepare for the test?
What do the test results mean?
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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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