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CEP290 Gene Senior-Loken syndrome type 6 NGS Genetic Test

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CEP290 Gene Senior-Loken syndrome type 6 NGS Genetic Test

Short Name: CEP290 SLS Type 6 NGS Test

Also known as: SLS Type 6, CEP290-related Senior-Loken syndrome, Nephronophthisis with retinal dystrophy

CEP290 Gene Senior-Loken syndrome type 6 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.

Next-Generation Sequencing (NGS)🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To identify mutations in the CEP290 gene for diagnosis of Senior-Loken syndrome type 6, guiding clinical management and genetic counseling.

Test Code
2642
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)
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling. No specific fasting required unless advised.

Method: Venipuncture or Saliva collection

Step 2

Laboratory Analysis

Blood sample drawn via venipuncture or saliva collected using a kit. Minimal discomfort.

Step 3

Report Delivery

Apply pressure to the puncture site. Resume normal activities. Store samples as instructed.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review. No special preparation needed.
2
During the Test:Sample collection via blood draw or saliva. Procedure takes about 15-30 minutes.
3
After the Test:Results available in 3-4 weeks. Follow-up with a genetic counselor for interpretation.

About This Test

Who Should Get This Test

To identify mutations in the CEP290 gene for diagnosis of Senior-Loken syndrome type 6, guiding clinical management and genetic counseling.

How to Prepare

  • Ensure proper labeling of samples
  • Follow kit instructions for saliva collection
  • Transport samples at ambient temperature

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"This NGS test is essential for confirming Senior-Loken syndrome type 6 diagnosis, enabling targeted management and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Saliva collection

Sample Stability

Blood: 48 hours at room temperature
Extracted DNA: stable for several days at 4°C
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or clotted blood sample
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of mutations in the CEP290 gene. Interpretation should be done by a genetic specialist.
📊

Positive (Mutation Detected)

Confirms diagnosis of Senior-Loken syndrome type 6. Genetic counseling recommended for family planning.

📊

Negative (No Mutation Detected)

No pathogenic variant found in CEP290 gene. Clinical symptoms may require further testing or alternative diagnoses.

⚠️ When to Consult a Doctor:

If you experience symptoms like vision loss, kidney problems, or have a family history of Senior-Loken syndrome, consult a geneticist or nephrologist.

Limitations

  • ⚠May not detect all types of genetic variants (e.g., deep intronic mutations)
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Not a substitute for comprehensive clinical evaluation

Risks & Considerations

  • ●Minimal risk from blood draw (bruising, infection)
  • ●Psychological impact of genetic results
  • ●No significant physical risks from saliva collection

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Technical errors in sequencing

Frequently Asked Questions

What is the CEP290 Gene Senior-Loken Syndrome Type 6 NGS Genetic Test?
It is a next-generation sequencing test that detects mutations in the CEP290 gene to diagnose Senior-Loken syndrome type 6, a rare disorder affecting eyes and kidneys.
What are the symptoms of Senior-Loken syndrome type 6?
Common symptoms include vision problems (e.g., blindness, night blindness), kidney failure, proteinuria, retinal degeneration, and anemia.
How is Senior-Loken syndrome type 6 diagnosed?
Diagnosis involves clinical evaluation, family history, and genetic testing like this NGS test to confirm CEP290 gene mutations.
What is the cost of the CEP290 Gene Senior-Loken Syndrome Type 6 NGS Genetic Test?
The test costs INR 20000 at DNA Labs India, with free home sample collection available.
What sample types are accepted for this test?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted samples.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection 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 does a positive result mean?
A positive result indicates a mutation in the CEP290 gene, confirming Senior-Loken syndrome type 6. Genetic counseling is recommended.
Can this test be used for prenatal diagnosis?
It may be used in some cases, but prenatal testing requires specialized consultation with a geneticist.
Is genetic counseling provided with the test?
Yes, a genetic counseling session is recommended to draw a pedigree chart and discuss results.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw. Psychological impact of results should be considered.
How can I book the CEP290 Gene Senior-Loken Syndrome Type 6 NGS Genetic Test?
You can book online through DNA Labs India's website or contact their customer service for assistance.
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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For Hospitals & Clinics

Reference 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.

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