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Arthrogryposis & Congenital Myasthenic Syndrome Gene Panel
₹ 19400
Arthrogryposis & Congenital Myasthenic Syndrome Gene Panel
₹ 19400 ₹ 19400

Arthrogryposis & Congenital Myasthenic Syndrome Gene Panel

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

Arthrogryposis & Congenital Myasthenic Syndrome Gene Panel Price

₹ 19400

Brief Details

Preparation
No special preparation required
Also Known As
Arthrogryposis & Congenital Myasthenic Syndrome Gene Panel by NGS
Fasting
Fasting not required
Reporting Time
About 4 weeks
Purpose
To detect genetic changes associated with arthrogryposis and congenital myasthenic syndromes

What is the Arthrogryposis & Congenital Myasthenic Syndrome Gene Panel?

The Arthrogryposis & Congenital Myasthenic Syndrome gene panel is a specialised genetic blood test designed to identify inherited causes of joint contractures and neuromuscular weakness present from birth or early infancy.

Arthrogryposis refers to multiple joint stiffness and limited movement at birth, while congenital myasthenic syndromes are genetic conditions that affect communication between nerves and muscles, leading to muscle weakness and fatigue. This test analyses multiple genes using advanced Next Generation Sequencing technology to help identify the exact genetic cause.

What Does the Arthrogryposis & Congenital Myasthenic Syndrome Gene Panel Measure?

This genetic test evaluates genes involved in muscle development, nerve signalling, and neuromuscular junction function:

  • Detection of disease causing mutations linked to congenital joint contractures
  • Identification of genetic causes of congenital myasthenic syndromes
  • Differentiation from acquired neuromuscular or muscular disorders
  • Support for accurate diagnosis when clinical examination and imaging are inconclusive

Arthrogryposis & Congenital Myasthenic Syndrome Gene Panel: Who Needs It and Why It’s Done

What Symptoms May Call for an Arthrogryposis & Congenital Myasthenic Syndrome Gene Panel?

Your doctor may recommend this test if a child or adult shows features such as:

  • Multiple joint contractures present at birth
  • Reduced or absent movement of limbs in infancy
  • Muscle weakness that worsens with activity
  • Feeding difficulties, weak cry, or breathing problems in newborns
  • Delayed motor development or difficulty walking

Who Should Get an Arthrogryposis & Congenital Myasthenic Syndrome Gene Panel?

This test is recommended for:

  • Newborns or children with congenital joint stiffness or muscle weakness
  • Individuals suspected to have congenital myasthenic syndrome
  • Patients with unexplained neuromuscular symptoms from early life
  • Families with a history of inherited neuromuscular disorders
  • Couples seeking genetic counselling or prenatal risk assessment

Why is the Arthrogryposis & Congenital Myasthenic Syndrome Gene Panel Done?

The test helps confirm the genetic cause of arthrogryposis or congenital myasthenic syndrome, enabling precise diagnosis, targeted treatment, and informed long term care planning.

Importance of Arthrogryposis & Congenital Myasthenic Syndrome Gene Panel

This gene panel plays an important role in early diagnosis of complex neuromuscular conditions. Identifying the underlying genetic cause helps guide treatment decisions such as physiotherapy, supportive care, and specific medications for congenital myasthenic syndromes. It also provides valuable information for predicting disease progression, planning long term support, and offering genetic counselling to families.

Arthrogryposis & Congenital Myasthenic Syndrome Gene Panel Booking & Reports – Metropolis Healthcare

How to Book the Arthrogryposis & Congenital Myasthenic Syndrome Gene Panel and Get Your Reports?

  1. Simple Online Booking
    Booking can be done through the Metropolis Healthcare App or website. Select the Arthrogryposis & Congenital Myasthenic 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 Arthrogryposis & Congenital Myasthenic Syndrome Gene Panel Available Near You?

Yes, Metropolis Healthcare offers home sample collection for the Arthrogryposis & Congenital Myasthenic Syndrome Gene Panel. This service reduces the need for travel and ensures professional sample handling while maintaining strict quality standards.

In How Much Time Will I Get Arthrogryposis & Congenital Myasthenic Syndrome Gene Panel Report?

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

Where Can I See or Get Arthrogryposis & Congenital Myasthenic Syndrome Gene Panel Results?

You can view and download your test results 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 Arthrogryposis & Congenital Myasthenic Syndrome Gene Panel Results

What Your Arthrogryposis & Congenital Myasthenic Syndrome Gene Panel Results May Indicate

Parameter Expected Finding Pathogenic Variant Detected May Indicate No Variant Detected May Indicate
Listed genes No disease causing variant detected Genetic forms of arthrogryposis or congenital myasthenic syndrome depending on the gene involved Symptoms may be due to other genetic, neuromuscular, or acquired conditions

 

Understanding Abnormal Arthrogryposis & Congenital Myasthenic Syndrome Gene Panel Test Results

Gene What a Pathogenic Variant May Indicate
AGRN, MUSK, DOK7, RAPSN Congenital myasthenic syndromes affecting nerve to muscle signalling
MYH3, MYH8, TPM2, TNNI2, TNNT3 Arthrogryposis with primary muscle involvement
ECEL1, PIEZO2, NALCN Severe congenital joint contractures with neurological features

How Should You Prepare for an Arthrogryposis & Congenital Myasthenic Syndrome Gene Panel?

This genetic test requires minimal preparation from your side:

  • No fasting required: You can eat and drink normally before sample collection
  • Medication information: Inform your doctor about any medicines or supplements being taken
  • Clinical history: Share details of symptoms, birth history, or family history of neuromuscular conditions
  • Test requisition form: Ensure the completed test requisition form and clinical information are provided

How Is an Arthrogryposis & Congenital Myasthenic 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 collect about 3 to 5 ml of blood into an EDTA vacutainer
  • Completion: The needle is removed, and a bandage is applied
  • Processing: The blood sample is analysed using Next Generation Sequencing to study the listed genes

Conditions That May Affect Arthrogryposis & Congenital Myasthenic Syndrome Gene Panel Accuracy

Certain patient related factors may influence interpretation:

  • Incomplete clinical history may limit correlation with genetic findings
  • Variants of uncertain significance may require specialist review
  • Early testing may need correlation with clinical and imaging findings

Diseases That Arthrogryposis & Congenital Myasthenic Syndrome Gene Panel Can Help Detect

  • Arthrogryposis multiplex congenita
  • Congenital myasthenic syndromes
  • Genetic neuromuscular junction disorders
  • Inherited causes of congenital joint contractures

References

  1. Engel A.G., Shen X.M., Selcen D., et al. (2015). Congenital myasthenic syndromes: Pathogenesis, diagnosis, and treatment. The Lancet Neurology, 14(4), 420–434. PMID: 25792122
  2. Beeson D., Hantaï D., Lochmüller H., et al. (2018). Congenital myasthenic syndromes and the neuromuscular junction. Current Opinion in Neurology, 31(5), 1–9. PMID: 30102653
  3. Bamshad M., Van Heest A.E., Pleasure D. (2009). Arthrogryposis: A review and update. The Journal of Bone and Joint Surgery, 91(1), 40–46. PMID: 19122086
  4. North K.N., Laing N.G., Wallgren Pettersson C. (1997). Nemaline myopathy: Current concepts. The Journal of Medical Genetics, 34(9), 705–713. PMID: 9321767

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

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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