Skip to main content
DNA Labs India

KIAA0586 Gene Joubert syndrome type 23 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

KIAA0586 Gene Joubert syndrome type 23 NGS Genetic Test

Short Name: Joubert Syndrome Type 23 Genetic Test

Also known as: Joubert Syndrome Type 23 NGS Test, KIAA0586 Gene Analysis, JBTS23 Genetic Test

KIAA0586 Gene Joubert syndrome type 23 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 from sample receipt. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose Joubert Syndrome Type 23 by identifying mutations in the KIAA0586 gene through NGS technology, facilitating early intervention, management, and genetic counseling for affected individuals and families.

Test Code
1649
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling to discuss test implications, family history, and consent. No specific preparation required for sample collection.

Method: Venipuncture or finger prick for FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop blood on FTA card. Procedure is minimally invasive.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store and transport sample as per lab instructions.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to understand the test purpose, process, and implications. Provide clinical history and family pedigree.
2
During the Test:Sample collection and analysis in the laboratory using NGS technology. The process is automated and precise.
3
After the Test:Receive the test report via chosen delivery method. Review results with a genetic counselor or physician for next steps.

About This Test

Who Should Get This Test

To diagnose Joubert Syndrome Type 23 by identifying mutations in the KIAA0586 gene through NGS technology, facilitating early intervention, management, and genetic counseling for affected individuals and families.

How to Prepare

  • Use aseptic technique during collection
  • Label sample with patient details accurately
  • For FTA card, air-dry blood spot before storage

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic diagnosis of Joubert Syndrome Type 23 through KIAA0586 gene testing can significantly improve symptom management and patient outcomes. Genetic counseling is essential to understand implications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL for blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick for FTA card

Sample Stability

Blood: Stable for 24 hours at room temperature
Extracted DNA: Stable for years if stored at -20°C
FTA card: Stable for extended periods at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results from the KIAA0586 Gene Joubert Syndrome Type 23 NGS Genetic Test indicate the presence or absence of mutations associated with the disorder. Interpretation should be done by a genetic specialist.
Positive for pathogenic variant: Confirms diagnosis of Joubert Syndrome Type 23; genetic counseling and management recommended
Negative for pathogenic variant: No mutation detected in KIAA0586; clinical evaluation may still be needed
Variant of uncertain significance (VUS): Requires further testing or family studies for clarification
Likely pathogenic variant: Strong indication for diagnosis; correlate with clinical symptoms
⚠️ When to Consult a Doctor:

If an individual exhibits symptoms such as abnormal breathing, ataxia, developmental delays, or has a family history of Joubert Syndrome, consult a neurologist or geneticist for evaluation and testing.

Limitations

  • ⚠Test may not detect all genetic variants (e.g., large deletions/duplications)
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Variants of uncertain significance may need further investigation

Risks & Considerations

  • ●Minimal risk of bruising or discomfort at blood draw site
  • ●Rare risk of infection
  • ●Psychological impact of results; genetic counseling recommended

Interfering Factors

  • ●Sample contamination or degradation
  • ●Insufficient DNA quantity or quality
  • ●Technical errors during sequencing

Frequently Asked Questions

What is Joubert Syndrome Type 23?
Joubert Syndrome Type 23 is a rare genetic disorder caused by mutations in the KIAA0586 gene, affecting brain development and leading to symptoms like abnormal breathing, ataxia, and developmental delays.
How is Joubert Syndrome Type 23 diagnosed?
It is diagnosed through genetic testing, specifically NGS analysis of the KIAA0586 gene, which identifies pathogenic mutations.
What is the cost of the KIAA0586 Gene NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, which includes genetic counseling, sample collection, and analysis.
What samples are required for the test?
Blood, extracted DNA, or one drop blood on an FTA card can be used. Home collection is available.
How long does it take to get test results?
Results are typically delivered within 3 to 4 weeks after sample receipt.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
What are the common symptoms of Joubert Syndrome Type 23?
Symptoms include abnormal breathing, lack of muscle coordination (ataxia), cognitive impairment, delayed development, epilepsy, eye movement issues, low muscle tone, kidney problems, and vision loss.
Is the genetic test covered by insurance?
Coverage depends on insurance providers. Check with your insurer, as schemes like PMJAY, CGHS, etc., may not cover it directly.
How accurate is the NGS genetic test?
NGS technology is highly accurate for detecting gene mutations, but results should be interpreted by a genetic specialist in clinical context.
Can the test be performed on children?
Yes, the test can be done on individuals of all ages, including children, with parental consent and genetic counseling.
What should I do if the test is positive?
A positive result confirms diagnosis; consult a geneticist or neurologist for management options, therapy, and family planning advice.
How do I prepare for the genetic test?
No special preparation is needed. Attend a genetic counseling session to discuss family history and understand the test process.
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.

Related Tests

CAT Gene Acatalasemia NGS Genetic Test

₹20,000

BLM Gene Bloom syndrome NGS Genetic Test

₹20,000

FANCC Gene Fanconi anemia type C NGS Genetic Test

₹20,000

TPI1 Gene Triosephosphate isomerase deficiency NGS Genetic Test

₹20,000

PTPN23 Gene Ciliogenesis related disorder NGS Genetic Test

₹20,000

FLNA Gene Otopaladigital syndrome type 2 NGS Genetic Test

₹20,000
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.

LIMS Integration

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.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.