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Progressive myoclonic epilepsy gene panel
₹ 19400
Progressive Myoclonic Epilepsy Gene Panel
₹ 19400 ₹ 19400

Progressive Myoclonic Epilepsy Gene Panel

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

Progressive myoclonic epilepsy gene panel Price

₹ 19400

Brief Details

Preparation
No special preparation required
Also Known As
Progressive myoclonic epilepsy Gene Panel by NGS
Fasting
Fasting not required
Reporting Time
After 4 weeks
Purpose
To detect genetic mutations causing progressive myoclonic epilepsy and support diagnosis, management, and family risk assessment

What is the Progressive Myoclonic Epilepsy Gene Panel?

The Progressive Myoclonic Epilepsy Gene Panel is a genetic blood test used to identify inherited conditions that cause progressive forms of epilepsy associated with muscle jerks, seizures, and neurological decline. These disorders often begin in childhood or adolescence and tend to worsen over time.

This test analyses multiple genes linked to progressive myoclonic epilepsy using advanced Next Generation Sequencing technology. It requires an EDTA blood sample and helps doctors confirm the genetic cause, guide treatment decisions, and provide accurate counselling for affected individuals and their families.

What Does the Progressive Myoclonic Epilepsy Gene Panel Measure?

This genetic test looks for disease causing changes in genes involved in brain function, neuronal signalling, and lysosomal pathways:

  • Detection of pathogenic variants associated with progressive myoclonic epilepsy
  • Identification of genetic causes of worsening seizure disorders
  • Differentiation of PME from other epilepsy syndromes
  • Support for prognosis assessment and long term care planning
  • Guidance for genetic counselling, family screening, and prenatal evaluation

Progressive Myoclonic Epilepsy Gene Panel: Who Needs It and Why It’s Done

What Symptoms May Call for a Progressive Myoclonic Epilepsy Gene Panel?

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

  • Recurrent myoclonic jerks or sudden muscle contractions
  • Worsening seizures that are difficult to control
  • Progressive loss of coordination or balance
  • Decline in cognitive or motor abilities over time
  • Epilepsy with associated vision, movement, or behavioural changes

Who Should Get a Progressive Myoclonic Epilepsy Gene Panel?

This test may be advised for:

  • Children or adolescents with suspected progressive epilepsy syndromes
  • Individuals with myoclonic seizures and neurological deterioration
  • Patients with epilepsy not responding well to standard treatments
  • Individuals with a family history of inherited epilepsy disorders
  • Couples seeking genetic counselling after an affected child

Why is a Progressive Myoclonic Epilepsy Gene Panel Done?

The test helps identify the genetic cause of progressive myoclonic epilepsy, allowing accurate diagnosis, targeted seizure management, and informed counselling regarding disease progression and family planning.

Importance of the Progressive Myoclonic Epilepsy Gene Panel

Progressive myoclonic epilepsy includes several rare but serious conditions that require early recognition. Genetic diagnosis helps tailor treatment, avoid medications that may worsen symptoms, anticipate complications, and plan supportive therapies. It also provides clarity on prognosis and supports informed decisions for families.

Progressive Myoclonic Epilepsy Gene Panel Booking & Reports – Metropolis Healthcare

How to Book the Progressive Myoclonic Epilepsy Gene Panel and Get Your Reports?

  1. Simple Online Booking
    Booking can be done through the Metropolis Healthcare App or website. Select the Progressive Myoclonic Epilepsy 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 Progressive Myoclonic Epilepsy Gene Panel Available Near You?

Yes, Metropolis Healthcare offers home sample collection for the Progressive Myoclonic Epilepsy Gene Panel. This service reduces the need for travel and ensures safe, professional sample handling at your convenience.

How Long Does It Take to Get a Progressive Myoclonic Epilepsy 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 Progressive Myoclonic Epilepsy Gene Panel Results?

You can access your results through the Metropolis Healthcare website or mobile app. Reports are also sent via email or WhatsApp, and a physical copy can be collected from the Metropolis Lab if required.

Interpreting Progressive Myoclonic Epilepsy Gene Panel Results

What Your Progressive Myoclonic Epilepsy Gene Panel Results May Indicate

Parameter Expected Finding Pathogenic Variant Detected May Indicate No Variant Detected May Indicate
PME related genes No disease causing variant detected Genetic form of progressive myoclonic epilepsy Symptoms may be due to other epilepsy types or genetic causes not covered by this panel

Understanding Abnormal Progressive Myoclonic Epilepsy Gene Panel Results by Gene Group

Gene Group What a Pathogenic Variant May Indicate
CLN, PPT1, TPP1 Neuronal ceroid lipofuscinosis associated epilepsy
CSTB, EPM2A, NHLRC1 Lafora disease and related PME conditions
KCNC1, KCTD7, PRICKLE genes Channelopathies and synaptic dysfunction causing myoclonic epilepsy

How Should You Prepare for a Progressive Myoclonic Epilepsy Gene Panel?

This genetic test requires minimal preparation. Please keep the following points in mind:

  • No fasting required: You can eat and drink normally
  • Normal hydration: Maintain your usual fluid intake
  • Medication details: Inform your doctor about all medicines or supplements
  • Clinical history: Share seizure history, EEG findings, and previous reports
  • Consent forms: Ensure the test requisition form and genetic history details are completed

How Is a Progressive Myoclonic Epilepsy Gene Panel Done? (Step-by-Step Procedure)

The test is performed using a simple 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 is analysed using Next Generation Sequencing to identify disease causing gene variants

Conditions That May Affect Progressive Myoclonic Epilepsy Gene Panel Accuracy

Certain patient related factors may influence interpretation:

  • Recent blood transfusion may affect genetic analysis
  • Incomplete clinical or seizure history can limit interpretation
  • Mosaic genetic variants may be difficult to detect
  • Variants of uncertain significance may require additional family testing

Diseases That a Progressive Myoclonic Epilepsy Gene Panel Can Help Detect

  • Lafora disease
  • Neuronal ceroid lipofuscinosis related epilepsy
  • Unverricht Lundborg disease
  • Other inherited progressive myoclonic epilepsy syndromes

References

  1. Minassian B.A. Progressive myoclonic epilepsies. Continuum (Minneap Minn). 2019;25(2):343–363. PMID: 30946317
  2. Berkovic S.F., Andermann F., Carpenter S., Wolfe L.S. Progressive myoclonus epilepsies: specific causes and diagnosis. Epilepsia. 1986;27(Suppl 2):S52–S63. PMID: 3521875
  3. Turnbull J., Tiberia E., Pereira J.A., et al. Lafora disease. Epileptic Disorders. 2016;18(S2):38–62. PMID: 27884063
  4. Canafoglia L., Franceschetti S., Antozzi C., et al. Progressive myoclonic epilepsies: clinical and molecular diagnosis. Lancet Neurology. 2012;11(8):679–691. PMID: 22795644

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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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