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PMP22 gene analysis (inflammatory demyelinating polyneuropathy screen)
₹ 18500
PMP22 Gene Analysis (Inflammatory Demyelinating Polyneuropathy Screen)
₹ 18500 ₹ 18500

PMP22 Gene Analysis (Inflammatory Demyelinating Polyneuropathy Screen)

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

PMP22 gene analysis (inflammatory demyelinating polyneuropathy screen) Price

₹ 18500

Brief Details

Preparation
No special preparation required
Also Known As
PMP22 Gene Panel by NGS
Fasting
Fasting not required
Reporting Time
About 4 weeks
Purpose
To detect genetic changes in the PMP22 gene associated with inherited demyelinating peripheral neuropathies

What is the PMP22 Gene Analysis (Inflammatory Demyelinating Polyneuropathy Screen)?

The PMP22 gene analysis is a specialised genetic blood test that looks for changes in the PMP22 gene, which plays an important role in the formation and maintenance of peripheral nerves. These nerves carry signals between your brain, spinal cord, and the rest of your body, helping control movement and sensation.

This test uses a blood sample to analyse the PMP22 gene through advanced Next Generation Sequencing technology. Doctors commonly recommend it to identify inherited causes of demyelinating peripheral neuropathy, a condition where the protective covering of nerves is damaged, leading to weakness, numbness, balance issues, or coordination problems.

What Does the PMP22 Gene Analysis Measure?

This genetic test provides detailed insights into nerve health by analysing the PMP22 gene:

  • Detection of disease causing mutations or copy number changes affecting peripheral nerve myelin
  • Identification of inherited neuropathies linked to PMP22 gene abnormalities
  • Differentiation between genetic neuropathies and acquired or inflammatory nerve conditions
  • Support for diagnosis when symptoms, nerve conduction studies, or imaging are inconclusive

PMP22 Gene Analysis: Who Needs It and Why It’s Done

What Symptoms May Call for a PMP22 Gene Analysis?

Your doctor may advise this test if you have symptoms suggesting peripheral nerve involvement, such as:

  • Gradually worsening muscle weakness, especially in the hands or feet
  • Numbness, tingling, or reduced sensation in the arms or legs
  • Frequent ankle sprains, foot drop, or difficulty walking
  • High foot arches, hammer toes, or other foot deformities
  • Recurrent nerve palsies triggered by mild pressure or minor injuries

Who Should Get a PMP22 Gene Analysis?

This test is recommended for:

  • Individuals with unexplained or longstanding peripheral neuropathy
  • People with a family history of inherited nerve disorders
  • Patients suspected of having Charcot Marie Tooth disease or related conditions
  • Individuals with recurrent pressure related nerve palsies
  • Families seeking genetic counselling or carrier screening

Why is the PMP22 Gene Analysis (Inflammatory Demyelinating Polyneuropathy Screen) Done?

The test helps confirm or rule out inherited demyelinating neuropathies by identifying genetic changes in the PMP22 gene, allowing for accurate diagnosis, appropriate management, and long term care planning.

Importance of PMP22 Gene Analysis (Inflammatory Demyelinating Polyneuropathy Screen)

PMP22 gene analysis plays a crucial role in understanding the root cause of inherited nerve disorders. A confirmed genetic diagnosis helps avoid unnecessary treatments, supports tailored physiotherapy and rehabilitation plans, and enables doctors to distinguish genetic neuropathies from inflammatory or acquired nerve conditions. The results also provide valuable information for family planning, carrier detection, and genetic counselling.

PMP22 Gene Analysis Booking & Reports – Metropolis Healthcare

How to Book the PMP22 Gene Analysis and Get Your Reports?

  1. Simple Online Booking
    Booking can be done through the Metropolis Healthcare App or website. Select the PMP22 Gene Analysis (Inflammatory Demyelinating Polyneuropathy Screen), 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 PMP22 Gene Analysis Available Near You?

Yes, Metropolis Healthcare offers home sample collection for PMP22 Gene Analysis (Inflammatory Demyelinating Polyneuropathy Screen). 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 PMP22 Gene Analysis 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 PMP22 Gene Analysis Results?

You can access your test results through the Metropolis Healthcare website or mobile app by logging in with your credentials. Reports are also shared via email or WhatsApp, and you may collect a physical copy from the Metropolis Lab if required.

Interpreting PMP22 Gene Analysis Results

What Your PMP22 Gene Analysis Results May Indicate

Parameter Expected Finding Pathogenic Variant Detected May Indicate No Variant Detected May Indicate
PMP22 gene No disease causing variant detected Inherited demyelinating neuropathy such as Charcot Marie Tooth disease type 1A or hereditary neuropathy with liability to pressure palsies Symptoms may be due to inflammatory neuropathy, other genetic causes, or variants not detected by this test

Understanding Abnormal PMP22 Gene Analysis Test Results

Gene What a Pathogenic Variant May Indicate
PMP22 Charcot Marie Tooth disease type 1A or hereditary neuropathy with liability to pressure palsies

How Should You Prepare for a PMP22 Gene Analysis?

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 all medicines or supplements you are taking
  • Clinical history: Share details of nerve related symptoms or family history of neuropathy
  • Test requisition form: Ensure the completed test requisition form and clinical information are provided

How Is a PMP22 Gene Analysis (Inflammatory Demyelinating Polyneuropathy Screen) Done? (Step-by-Step Procedure)

The test is carried out 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 PMP22 gene

Conditions That May Affect PMP22 Gene Analysis Accuracy

Certain patient related factors may influence result interpretation:

  • Incomplete clinical history may limit correlation with genetic findings
  • Variants of uncertain significance may require clinical follow up and repeat evaluation
  • Family history details are important for accurate interpretation of genetic changes

Diseases That PMP22 Gene Analysis Can Help Detect

  • Charcot Marie Tooth disease type 1A
  • Hereditary neuropathy with liability to pressure palsies
  • Inherited demyelinating peripheral neuropathies
  • Genetic causes of chronic peripheral nerve weakness

References

  1. Doherty E., Burns J., Ouvrier R.A., et al. (2014). Clinical and genetic aspects of Charcot Marie Tooth disease. Journal of Neurology, Neurosurgery and Psychiatry, 85(12), 1293–1300. PMID: 24710125
  2. Li J., Parker B., Martyn C., et al. (2013). The PMP22 gene and its role in inherited peripheral neuropathies. Neuromolecular Medicine, 15(2), 244–255. PMID: 23385745
  3. Saporta M.A. (2014). Charcot Marie Tooth disease and other inherited neuropathies. Continuum, 20(5), 1208–1225. PMID: 25299244
  4. Reilly M.M., Murphy S.M., Laura M. (2011). Charcot Marie Tooth disease. Journal of the Peripheral Nervous System, 16(1), 1–14. PMID: 21504498
  5. Pareyson D., Saveri P., Pisciotta C. (2017). New developments in Charcot Marie Tooth neuropathy and related disorders. Current Opinion in Neurology, 30(5), 471–480. PMID: 28746292

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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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  • Continuous monitoring of turnaround times to ensure accuracy and speed
  • Dedicated support team to resolve any delays or queries quickly

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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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