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Hyperekplexia gene panel
₹ 19400
Hyperekplexia Gene Panel
₹ 19400 ₹ 19400

Hyperekplexia Gene Panel

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

Hyperekplexia gene panel Price

₹ 19400

Brief Details

Preparation
No special preparation required
Also Known As
Hyperekplexia Gene Panel by NGS
Fasting
Fasting not required
Reporting Time
After 4 weeks
Purpose
To identify genetic mutations causing hereditary hyperekplexia and support diagnosis, treatment planning, and family risk assessment

What is the Hyperekplexia Gene Panel?

The Hyperekplexia Gene Panel is a genetic blood test used to diagnose hereditary hyperekplexia, a rare neurological condition also known as startle disease. This condition causes an exaggerated startle response and muscle stiffness, often beginning in infancy.

The test analyses key genes involved in inhibitory nerve signalling using Next Generation Sequencing technology. It requires an EDTA blood sample and helps doctors confirm the diagnosis, plan appropriate treatment, and assess genetic risk for other family members.

What Does the Hyperekplexia Gene Panel Measure?

This genetic test looks for changes in genes that regulate nerve signal transmission and muscle control:

  • Detection of disease causing variants linked to hereditary hyperekplexia
  • Differentiation of hyperekplexia from epilepsy or other neuromuscular disorders
  • Identification of inherited risk affecting startle reflex and muscle tone
  • Support for treatment planning and long term neurological care
  • Guidance for genetic counselling, family screening, and prenatal evaluation

Hyperekplexia Gene Panel: Who Needs It and Why It’s Done

What Symptoms May Call for a Hyperekplexia Gene Panel?

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

  • Excessive startle response to sudden sounds or touch
  • Muscle stiffness, especially in newborns or infants
  • Episodes of sudden falls without loss of consciousness
  • Breathing difficulties or stiffness triggered by startle
  • Symptoms mistaken for seizures but unresponsive to anti seizure medication

Who Should Get a Hyperekplexia Gene Panel?

  • Newborns or infants with severe startle reactions and stiffness
  • Children or adults with unexplained exaggerated startle responses
  • Individuals with suspected hereditary startle disorders
  • Patients with a family history of hyperekplexia
  • Couples planning a pregnancy with known genetic risk

Why is a Hyperekplexia Gene Panel Done?

The test helps identify the genetic cause of hyperekplexia, enabling early diagnosis, appropriate treatment, and prevention of injury related to sudden falls or stiffness episodes.

Importance of the Hyperekplexia Gene Panel

Early diagnosis of hyperekplexia is important because effective treatment can significantly reduce symptoms and prevent complications such as falls, breathing difficulties, and injury. This gene panel allows precise identification of the underlying genetic defect, helping your doctor choose suitable medications, provide safety guidance, and offer accurate counselling for long term management.

Hyperekplexia Gene Panel Booking & Reports – Metropolis Healthcare

How to Book the Hyperekplexia Gene Panel and Get Your Reports?

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

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

How Long Does It Take to Get a Hyperekplexia 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 Hyperekplexia Gene Panel Results?

  1. Metropolis Healthcare website or mobile app
    You can access your test results through the Metropolis Healthcare website or mobile app using your login details.
  2. Email or WhatsApp
    Reports are also shared via email or WhatsApp.
  3. Physical copy from the lab
    You may collect a physical copy directly from the Metropolis Lab if required.

Interpreting Hyperekplexia Gene Panel Results

What Your Hyperekplexia Gene Panel Results May Indicate

Parameter Expected Finding Pathogenic Variant Detected May Indicate No Variant Detected May Indicate
Hyperekplexia related genes No disease causing variant detected Hereditary hyperekplexia affecting inhibitory nerve signalling Symptoms may be due to other neurological or neuromuscular conditions

Understanding Abnormal Hyperekplexia Gene Panel Test Results

Gene Group What a Pathogenic Variant May Indicate
GLRA1 and GLRB Defective glycine receptor function causing exaggerated startle response
SLC6A5 Impaired glycine transport affecting inhibitory neurotransmission
ARHGEF9 Disruption of synaptic signalling linked to startle and muscle stiffness

How Should You Prepare for a Hyperekplexia Gene Panel?

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

  • No fasting required: You can eat and drink normally unless advised otherwise by your doctor
  • Normal hydration: Continue your usual fluid intake
  • Medication information: Inform your doctor about all medicines or supplements you are taking
  • Clinical history: Share relevant medical and family history to support accurate interpretation
  • Consent and forms: Ensure the test requisition form and genetic history details are completed

How Is a Hyperekplexia 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 gene mutations linked to hyperekplexia.

Conditions That May Affect Hyperekplexia Gene Panel Accuracy

Certain patient related factors may influence test interpretation:

  • Recent blood transfusion may affect genetic analysis
  • Incomplete or incorrect clinical history can limit interpretation
  • Mosaic genetic changes may be harder to detect in some individuals
  • Variants of uncertain significance may require further family testing

Diseases That a Hyperekplexia Gene Panel Can Help Detect

  • Hereditary hyperekplexia
  • Genetic startle disorders
  • Disorders of inhibitory neurotransmission

References

  1. Shiang R., Ryan S.G., Zhu Y.Z., et al. (1993). Mutations in the alpha1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nature Genetics, 5(4), 351–358. PMID: 8298646
  2. Rees M.I., Harvey K., Ward H., et al. (2002). Isoform heterogeneity of the human glycine receptor alpha subunit and its role in hyperekplexia. Journal of Neuroscience, 22(17), 7797–7804. PMID: 12196503
  3. Thomas R.H., Chung S.K., Wood S.E., et al. (2013). Genotype phenotype correlations in hyperekplexia. Journal of Neurology, Neurosurgery and Psychiatry, 84(9), 1–7. PMID: 23535226

Frequently asked questions

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

Regular exercise, a balanced diet, avoiding smoking, maintaining a healthy weight, and managing stress all help reduce heart disease risk.

Common signs include irritability, trouble sleeping, headaches, difficulty concentrating, and muscle tension.

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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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  • Real-time tracking of phlebotomist arrival and report generation
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  • 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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