Brown Vialetto-Van Laere Syndrome Gene Panel

What is the Brown Vialetto-Van Laere Syndrome Gene Panel?

The Brown Vialetto-Van Laere Syndrome Gene Panel is a genetic blood test used to diagnose Brown Vialetto-Van Laere syndrome, a rare inherited neurological condition that affects motor neurons and cranial nerves.

This disorder is most commonly caused by mutations in riboflavin transporter genes, leading to progressive muscle weakness, hearing loss, and breathing difficulties. The test uses next generation sequencing technology to identify disease causing genetic changes, helping confirm diagnosis and guide targeted treatment such as riboflavin supplementation. The test requires a blood sample collected in an EDTA tube.

What Does the Brown Vialetto-Van Laere Syndrome Gene Panel Measure?

This genetic test looks for disease causing changes linked to Brown Vialetto-Van Laere syndrome:

• Detects pathogenic variants associated with riboflavin transporter deficiency
• Helps confirm the diagnosis of Brown Vialetto-Van Laere syndrome
• Supports early diagnosis in individuals with progressive neuromuscular symptoms
• Aids genetic counselling and carrier screening
• Assists clinicians in planning targeted therapy and long term management

Brown Vialetto-Van Laere Syndrome Gene Panel: Who Needs It and Why It’s Done

What Symptoms May Call for a Brown Vialetto-Van Laere Syndrome Gene Panel?

Doctors may recommend this test if you or your child experience:

• Progressive muscle weakness affecting the limbs or face
• Hearing loss developing in childhood or adolescence
• Difficulty swallowing or speaking
• Breathing problems due to muscle weakness
• Gradual worsening of neurological function

Who Should Get a Brown Vialetto-Van Laere Syndrome Gene Panel?

This test may be advised for:

• Individuals with suspected inherited neuromuscular disorders
• Patients with progressive motor neuron symptoms and hearing loss
• Children or young adults with unexplained cranial nerve involvement
• Families with a known history of the condition
• Individuals requiring genetic confirmation before starting targeted therapy

Why is the Brown Vialetto-Van Laere Syndrome Gene Panel Done?

The test helps confirm the genetic cause of Brown Vialetto-Van Laere syndrome, enabling timely treatment, appropriate supportive care, and accurate genetic counselling for affected families.

Brown Vialetto-Van Laere Syndrome Gene Panel Booking & Reports – Metropolis Healthcare

How to Book the Brown Vialetto-Van Laere Syndrome Gene Panel and Get Your Reports?

1. Simple Online Booking
   Booking can be done through the Metropolis Healthcare App or website. Select the Brown Vialetto-Van Laere 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 molecular diagnostic 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 Brown Vialetto-Van Laere Syndrome Gene Panel Available Near You?

Yes, Metropolis Healthcare offers home sample collection for the Brown Vialetto-Van Laere Syndrome Gene Panel. This service saves you time, reduces the need for travel, and ensures professional sample handling while maintaining strict quality standards.

In How Much Time Will I Get the Brown Vialetto-Van Laere Syndrome Gene Panel Report?

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

Where Can I See or Get Brown Vialetto-Van Laere Syndrome Gene Panel Results?

You can access your test reports through the Metropolis Healthcare website or mobile app using your login credentials. Reports are also sent via email or WhatsApp, and you may collect a physical copy from the Metropolis Lab if required.

Interpreting Brown Vialetto-Van Laere Syndrome Gene Panel Results

What Your Brown Vialetto-Van Laere Syndrome Gene Panel Results May Indicate

Understanding Abnormal Brown Vialetto-Van Laere Syndrome Gene Panel Results

How Should You Prepare for a Brown Vialetto-Van Laere Syndrome Gene Panel?

This genetic test requires minimal preparation from your side:

• No fasting required: You can eat and drink normally before sample collection
• Normal hydration: Maintain your usual fluid intake
• Medication disclosure: Inform your doctor about any medicines or supplements
• Share clinical history: Provide relevant neurological symptoms and family history
• Consent and documentation: Ensure the test requisition form and clinical details are completed

How Is a Brown Vialetto-Van Laere 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 antiseptic
• Sample Collection: A sterile needle is used to draw about 3 to 5 ml of blood into an EDTA vacutainer
• Completion: The needle is removed, and a bandage is applied
• Processing: The sample undergoes next generation sequencing to analyse genes linked to the condition

Conditions That May Affect Brown Vialetto-Van Laere Syndrome Gene Panel Accuracy

Certain patient related factors may influence test interpretation:

• Recent blood transfusion, which may affect genetic analysis
• Incomplete or inaccurate clinical or family history
• Presence of mosaic genetic changes requiring clinical correlation

Diseases That the Brown Vialetto-Van Laere Syndrome Gene Panel Can Help Detect

• Brown Vialetto-Van Laere syndrome
• Riboflavin transporter deficiency
• Inherited motor neuron disorders

References

1. Bosch A.M., Abeling N.G., Ijlst L., et al. (2011). Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mitochondrial dysfunction. Brain, 134(1), 29–38. PMID: 21131297
2. Green P., Wiseman M., Crow Y.J., et al. (2010). Brown-Vialetto-Van Laere syndrome, a puzzling multisystem disorder. Journal of Neurology, Neurosurgery and Psychiatry, 81(9), 967–973. PMID: 20547690
3. Jaeger B., Bosch A.M. (2016). Clinical presentation and outcome of riboflavin transporter deficiency. Journal of Inherited Metabolic Disease, 39(4), 559–567. PMID: 26969007