Ciliopathies Panel NGS Genetic Test
Short Name: Ciliopathies Panel
Also known as: Ciliopathy Genetic Panel, NGS Ciliopathy Test
Ciliopathies Panel 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 Reports are delivered within 3 to 4 weeks after sample receipt.. 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 Ciliopathies Panel NGS Genetic Test is to provide a definitive diagnosis for suspected ciliopathies by detecting pathogenic mutations in relevant genes. This helps in confirming clinical suspicions, differentiating between similar disorders, and informing targeted therapies or supportive care. It also aids in genetic counseling for families, assessing recurrence risks, and facilitating early intervention to manage symptoms and prevent complications.
- Test Code
- 5635
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with ciliopathies are required. No fasting is needed.
Method: Blood draw or saliva collection
Laboratory Analysis
A small blood sample is drawn from a vein or a saliva sample is collected using a kit. The process is quick and minimally invasive.
Report Delivery
The sample is labeled and sent to the laboratory for DNA extraction and NGS analysis. Results are typically available in 3-4 weeks.
Timeline: Reports are delivered within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the Ciliopathies Panel NGS Genetic Test is to provide a definitive diagnosis for suspected ciliopathies by detecting pathogenic mutations in relevant genes. This helps in confirming clinical suspicions, differentiating between similar disorders, and informing targeted therapies or supportive care. It also aids in genetic counseling for families, assessing recurrence risks, and facilitating early intervention to manage symptoms and prevent complications.
How to Prepare
- Ensure proper identification of the patient
- Use sterile equipment for blood collection
- Follow kit instructions for saliva collection
- Store samples at recommended temperatures before shipping
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of ciliopathies can inform treatment strategies, family planning, and improve patient outcomes through timely interventions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improperly labeled or contaminated samples
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of a ciliopathy; genetic counseling recommended
Likely pathogenic variant detected
Strong evidence for genetic cause; clinical correlation advised
Variant of uncertain significance (VUS)
Further testing or family studies may be needed
No pathogenic variant detected
Genetic cause unlikely; consider other diagnostic avenues
Consult a doctor if you experience symptoms such as vision loss, hearing impairment, kidney problems, or respiratory issues, especially with a family history of genetic disorders. Genetic counseling is advised before and after testing.
Limitations
- ⚠May not detect all genetic variants due to technical limitations
- ⚠Variants of uncertain significance (VUS) may be reported
- ⚠Does not rule out non-genetic causes of symptoms
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
- ●Possibility of inconclusive results requiring further testing
Interfering Factors
- ●Poor sample quality or insufficient DNA
- ●Contamination during sample collection
- ●Recent blood transfusions may affect results
Frequently Asked Questions
What are ciliopathies?
How is the Ciliopathies Panel test performed?
What is the cost of the test?
Is home collection available?
How long does it take to get results?
What genes are included in the panel?
Who should consider this test?
Is the test painful?
Can the test detect all ciliopathies?
What if the test result is positive?
Is genetic counseling provided?
How accurate is the test?
Related Tests
KIAA0586 Gene Joubert syndrome type 23 NGS Genetic Test
₹20,000CAT Gene Acatalasemia NGS Genetic Test
₹20,000BLM Gene Bloom syndrome NGS Genetic Test
₹20,000FANCC Gene Fanconi anemia type C NGS Genetic Test
₹20,000TPI1 Gene Triosephosphate isomerase deficiency NGS Genetic Test
₹20,000PTPN23 Gene Ciliogenesis related disorder NGS Genetic Test
₹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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.