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Familial female mental retardation/epilepsy gene panel
₹ 19400
Familial Female Mental Retardation Epilepsy Gene Panel
₹ 19400 ₹ 19400

Familial Female Mental Retardation Epilepsy Gene Panel

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

Familial female mental retardation/epilepsy gene panel Price

₹ 19400

Brief Details

Preparation
No special preparation required
Also Known As
Familial Female Mental Retardation Epilepsy Gene Panel by NGS
Fasting
Fasting not required
Reporting Time
Around 4 weeks
Purpose
To identify genetic mutations causing inherited intellectual disability and epilepsy in females

What Is the Familial Female Mental Retardation Epilepsy Gene Panel?

The Familial Female Mental Retardation Epilepsy Gene Panel is a genetic blood test used to diagnose inherited neurodevelopmental disorders that primarily affect females and are associated with intellectual disability and epilepsy. These conditions often present with early onset seizures and developmental delays.

This test analyses multiple genes known to be linked to epilepsy syndromes and cognitive impairment in females, including X linked and autosomal dominant conditions.

What Does the Familial Female Mental Retardation Epilepsy Gene Panel Measure?

This test evaluates genes involved in brain development, neuronal signalling, and seizure regulation:

  • Detection of pathogenic genetic variants linked to epilepsy and intellectual disability
  • Identification of specific genetic syndromes such as PCDH19 related epilepsy
  • Differentiation between genetic and non genetic causes of epilepsy
  • Support for prognosis assessment and family counselling

Familial Female Mental Retardation Epilepsy Gene Panel: Who Needs It and Why It’s Done

What Symptoms May Call for This Gene Panel?

Your doctor may recommend this test if a female patient shows:

  • Early onset or recurrent seizures
  • Developmental delay or learning difficulties
  • Regression of developmental milestones
  • Poor response to standard anti seizure medications
  • Family history of epilepsy or intellectual disability

Who Should Get This Test?

This test is recommended for:

  • Females with unexplained epilepsy and intellectual disability
  • Girls with seizure clusters starting in infancy or early childhood
  • Patients suspected of PCDH19 related epilepsy
  • Families with a known history of genetic epilepsy syndromes
  • Individuals seeking genetic counselling and recurrence risk assessment

Why Is the Familial Female Mental Retardation Epilepsy Gene Panel Done?

The test helps confirm a genetic diagnosis, enabling targeted seizure management, developmental planning, and informed family counselling.

Importance of the Familial Female Mental Retardation Epilepsy Gene Panel

A confirmed genetic diagnosis helps guide treatment choices, anticipate disease progression, and provide clarity on inheritance patterns. Early diagnosis supports timely interventions that can improve developmental outcomes and quality of life.

Familial Female Mental Retardation Epilepsy Gene Panel Booking and Reports – Metropolis Healthcare

How to Book the Familial Female Mental Retardation Epilepsy Gene Panel and Get Your Reports?

  1. Simple Online Booking
    Booking can be done through the Metropolis Healthcare App or website. Select the Familial Female Mental Retardation 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 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 Familial Female Mental Retardation Epilepsy Gene Panel Available Near You?

Yes, Metropolis Healthcare offers home sample collection for the Familial Female Mental Retardation Epilepsy Gene Panel. This service saves time, reduces travel, and ensures professional sample handling while maintaining strict quality standards.

In How Much Time Will I Get the 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 the Test 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 Familial Female Mental Retardation Epilepsy Gene Panel Results

What Your Test Results May Indicate

Parameter Expected Finding Pathogenic Variant Detected May Indicate No Variant Detected May Indicate
Epilepsy and neurodevelopment related genes No pathogenic variant detected Genetic epilepsy or intellectual disability syndrome Symptoms may be due to non genetic or currently undetectable causes

Understanding Abnormal Results by Gene Group

Gene Group What a Pathogenic Variant May Indicate
PCDH19 Epilepsy and intellectual disability limited to females
SCN1A, SCN2A, SCN8A Genetic epilepsy syndromes
CDKL5, MECP2 Severe early onset neurodevelopmental disorders
KCNQ2, KCNQ3 Early infantile epileptic encephalopathy

How Should You Prepare for This Test?

This test requires minimal preparation:

  • No fasting required
  • Continue regular medications unless advised otherwise
  • Share detailed seizure history and developmental records with your doctor
  • Ensure test requisition form and genetic history are completed
  • Maintain normal hydration before sample collection

How Is the Familial Female Mental Retardation Epilepsy Gene Panel Done?

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
  • Completion: The needle is removed, and a bandage is applied
  • Processing: The sample is analysed using next generation sequencing

Conditions That May Affect Result Interpretation

Certain patient related factors may influence interpretation:

  • Incomplete clinical or family history
  • Presence of variants of uncertain significance
  • Genetic variants outside the tested gene panel
  • Complex inheritance patterns in epilepsy syndromes

Diseases That the Panel Can Help Detect

  • PCDH19 related epilepsy
  • Genetic epileptic encephalopathies
  • X linked and autosomal dominant neurodevelopmental disorders

References

  1. Depienne C., LeGuern E. (2012). PCDH19 related epilepsy. Epilepsia, 53(4), 617–623. PMID: 22429138
  2. Nabbout R., Kuchenbuch M. (2020). Impact of genetic testing in epilepsy. Epileptic Disorders, 22(3), 234–244. PMID: 32383744
  3. Scheffer I.E., Liao J. (2020). Decoding the genetic architecture of epilepsy. The Lancet Neurology, 19(4), 321–333. PMID: 32199163

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

Choose precision On time, every time!

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.

In diagnostic services, we have more than three decades of experience servicing diverse stakeholders health advantage packages for men, women and seniors, genetic fitness & corporation in over 650+ tests like Oncology, Neurology, Gynaecology, Haematology, and many more. Our diagnostic services are located in leading doctors and clinics and serve over 15+ cities in India.

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