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Joubert syndrome gene panel
₹ 19400
Joubert Syndrome Gene Panel
₹ 19400 ₹ 19400

Joubert Syndrome Gene Panel

Sample Type 51+ booked in last 3 days
Precaution
Sample Type
Swab
Precaution
Fasting
Yes
Precaution
Report
Within 4 Weeks

Joubert syndrome gene panel Price

₹ 19400

Brief Details

Preparation
No special preparation required
Also Known As
Joubert Syndrome Gene Panel by NGS
Fasting
Fasting not required
Reporting Time
Around 4 weeks
Purpose
To identify genetic mutations causing Joubert syndrome and related neurodevelopmental disorders

What Is the Joubert Syndrome Gene Panel?

The Joubert Syndrome Gene Panel is a genetic blood test used to diagnose Joubert syndrome, a rare inherited condition that affects brain development, particularly the cerebellum and brainstem. This condition can lead to problems with movement, balance, breathing, eye movements, and overall development.

This test analyses multiple genes known to be associated with Joubert syndrome and related disorders. It helps your doctor confirm a genetic diagnosis when clinical features and brain imaging suggest this condition.

What Does the Joubert Syndrome Gene Panel Measure?

This test examines genes involved in brain development and ciliary function:

  • Detection of pathogenic genetic variants linked to Joubert syndrome
  • Identification of the specific genetic cause and subtype
  • Differentiation from other neurodevelopmental or cerebellar disorders
  • Support for prognosis assessment and family counselling

Joubert Syndrome Gene Panel: Who Needs It and Why It’s Done

What Symptoms May Call for a Joubert Syndrome Gene Panel?

Your doctor may recommend this test if the following features are present:

  • Developmental delay or poor muscle tone in infancy
  • Problems with coordination and balance
  • Abnormal breathing patterns in early life
  • Eye movement abnormalities
  • Distinctive brain MRI findings such as the molar tooth sign
  • Unexplained neurological or developmental concerns

Who Should Get a Joubert Syndrome Gene Panel?

This test is advised for:

  • Infants and children with suspected Joubert syndrome
  • Individuals with characteristic MRI findings
  • Patients with developmental delay and neurological symptoms
  • Families with a known history of Joubert syndrome
  • Couples seeking genetic counselling or prenatal assessment

Why Is the Joubert Syndrome Gene Panel Done?

The test confirms the genetic basis of Joubert syndrome, allowing accurate diagnosis, appropriate clinical management, and informed family planning.

Importance of the Joubert Syndrome Gene Panel

A confirmed genetic diagnosis helps guide early intervention strategies, developmental therapies, and monitoring for associated complications involving the kidneys, liver, or eyes. It also provides families with clarity about inheritance patterns, recurrence risks, and long term outlook.

Joubert Syndrome Gene Panel Booking & Reports – Metropolis Healthcare

How to Book the Joubert Syndrome Gene Panel and Get Your Reports?

  1. Simple Online Booking
    Booking can be done through the Metropolis Healthcare App or website. Select the Joubert Syndrome Gene Panel, choose a convenient time slot, and provide your address for a blood test at home. You may also visit a nearby Metropolis Lab if you prefer in person sample collection.
  2. Safe Home Sample Collection
    Trained phlebotomists collect your blood sample while strictly following safety and hygiene protocols.
  3. Sample Tracking Updates
    You receive updates at every stage, from sample collection to testing, through the Metropolis Healthcare platform.
  4. Accurate Laboratory Testing
    Your sample is processed at NABL and CAP accredited laboratories using advanced next generation sequencing technology.
  5. Quick and Easy Reports
    Your reports are shared via email, WhatsApp, or can be downloaded from the Metropolis Healthcare website or app.

Is Home Sample Collection for Joubert Syndrome Gene Panel Available Near You?

Yes, Metropolis Healthcare offers home sample collection for the Joubert Syndrome Gene Panel. This service ensures professional sample handling, reduces travel, and maintains strict quality standards.

In How Much Time Will I Get the Joubert Syndrome Gene Panel Report?

Reports are usually available in around 4 weeks once the sample reaches the lab.
Note: Reporting time may vary based on your location.

Where Can I See or Get Joubert Syndrome Gene Panel Results?

You can view and download your reports through the Metropolis Healthcare website or app. Reports are also sent via email or WhatsApp, and you may collect a physical copy from the Metropolis Lab if required.

Interpreting Joubert Syndrome Gene Panel Results

What Your Joubert Syndrome Gene Panel Results May Indicate

Parameter Expected Finding Pathogenic Variant Detected May Indicate No Variant Detected May Indicate
Joubert syndrome related genes No pathogenic variant detected Genetic confirmation of Joubert syndrome or related ciliopathy Symptoms may be due to non-genetic or currently undetectable causes

Understanding Abnormal Joubert Syndrome Gene Panel Results by Gene Group

Gene Group What a Pathogenic Variant May Indicate
Ciliary function genes Classic Joubert syndrome
Brain development genes Joubert related neurodevelopmental disorders
Multisystem involvement genes Joubert syndrome with kidney, liver, or eye involvement

How Should You Prepare for a Joubert Syndrome Gene Panel?

This test requires minimal preparation from your side:

  • No fasting required: You can eat and drink normally
  • Continue medications: Do not stop prescribed medicines unless advised by your doctor
  • Inform your doctor: Share details of developmental history, MRI findings, and family history
  • Complete forms: Ensure the test requisition form and genetic history details are provided
  • Normal hydration: Drink water as you usually would before sample collection

How Is a Joubert Syndrome Gene Panel Done? (Step-by-Step Procedure)

The test is performed using a standard blood collection process:

  • Preparation: A tourniquet is tied around your arm to make veins more visible
  • Cleaning: The puncture site is cleaned with an antiseptic
  • Sample Collection: About 3 to 5 ml of blood is drawn into an EDTA vacutainer using a sterile needle
  • Completion: The needle is removed, and a bandage is applied
  • Processing: The sample is analysed using next generation sequencing to identify genetic variants

Conditions That May Affect Joubert Syndrome Gene Panel Accuracy

Certain patient-related factors may influence result interpretation:

  • Incomplete clinical or family history information
  • Mosaic genetic variants present at low levels
  • Genetic variants outside the tested gene panel
  • Limited genotype phenotype correlation in early stages

Diseases That the Joubert Syndrome Gene Panel Can Help Detect

  • Joubert syndrome
  • Joubert related disorders
  • Ciliopathy related neurodevelopmental conditions

References

  1. Romani M., Micalizzi A., Valente E.M. (2013). Joubert syndrome: Congenital cerebellar ataxia with the molar tooth. Lancet Neurology, 12(9), 894–905. PMID: 23870898
  2. Brancati F., Dallapiccola B., Valente E.M. (2010). Joubert syndrome and related disorders. Orphanet Journal of Rare Diseases, 5, 20. PMID: 20482866
  3. Parisi M.A. (2009). Clinical and molecular features of Joubert syndrome and related disorders. American Journal of Medical Genetics Part C, 151C(4), 326–340. PMID: 19876903

Frequently asked questions

Find quick answers to the most common questions about health tests, bookings, and reports.

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Ratings & Reviews

We're satisfying our customers every day since 1980.

Morning given the samples in Ayanavaram branch got the report by 12.30pm it's fast and efficient delivery by mail and want to tell about the staff they are very professional and friendly definitely I will recommend my friends and family to metropolis labs

Prabhu Gopalakrishnan. 5

The Home Service was excellent. Medical Technician took samples at 7:00am and returned at 9:30 after breakfast to take further samples. The results were sent by email at 6pm. The whole experience was excellent, professional and well organised. Will certainly recommend the home service for convenience

Chris Bessell 5

Excellent service - I was able to request services late at night (9pm) and the technician was at my door at 7:30am the next morning. The services were highly affordable and convenient. I live in the US and the US could learn a lot from Metropolis!!!

Sharmila Vaishnav. 5

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

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Precision
  • 98% on time collections with a 60 minutes promise
  • Real-time tracking of phlebotomist arrival and report generation
  • Fully digital report delivery—view from mobile or desktop instantly
  • Continuous monitoring of turnaround times to ensure accuracy and speed
  • Dedicated support team to resolve any delays or queries quickly

Why Metropolis Healthcare?

Metropolis has been present for over 40 years in the market.

Metropolis has a team of 200 senior pathologists and over 2000 technicians delivering diagnostic solutions in the areas of routine, semi specialty and super specialty domains like Oncology, Neurology, Gynaecology, Nephrology and many more.

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Metropolis Healthcare is a leading diagnostic service provider in India. We are a team of dedicated professionals committed to ensuring you and your family receive the most accurate and timely healthcare solutions. We believe in making health care accessible, affordable and evidence-based. Our expert panel are equipped with the latest technology and manned by a certified team of over 4000+ technicians.

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