Neurodegeneration with Brain Iron Accumulation Gene Panel
Neurodegeneration with brain iron accumulation gene panel Price
Brief Details
What is the Neurodegeneration with Brain Iron Accumulation Gene Panel?
The Neurodegeneration with Brain Iron Accumulation Gene Panel is a genetic blood test used to identify inherited conditions in which excess iron accumulates in specific areas of the brain. These rare disorders can lead to progressive movement problems, muscle stiffness, cognitive decline, and neurological symptoms that worsen over time.
This test analyses multiple genes associated with iron metabolism and neurodegeneration using Next Generation Sequencing technology. It requires an EDTA blood sample and helps confirm a genetic diagnosis when clinical symptoms and imaging findings suggest NBIA.
What Does the Neurodegeneration with Brain Iron Accumulation Gene Panel Measure?
This genetic test looks for disease causing variants in genes linked to abnormal brain iron storage and neurodegeneration:
- Detection of inherited NBIA related gene mutations
- Confirmation of specific NBIA subtypes such as PKAN or PLAN
- Differentiation of NBIA from other movement or neurodegenerative disorders
- Support for prognosis assessment and long term care planning
- Guidance for genetic counselling and family screening
Neurodegeneration with Brain Iron Accumulation Gene Panel: Who Needs It and Why It’s Done
What Symptoms May Call for a Neurodegeneration with Brain Iron Accumulation Gene Panel?
Doctors may suggest this test if you or your child experience:
- Progressive muscle stiffness or dystonia
- Difficulty walking or abnormal movements
- Developmental regression in children
- Parkinsonism like symptoms at a young age
- Cognitive decline or behavioural changes
- Brain MRI findings showing iron deposition
Who Should Get a Neurodegeneration with Brain Iron Accumulation Gene Panel?
This test may be recommended for:
- Children or adults with suspected NBIA based on symptoms and imaging
- Individuals with early onset movement disorders of unknown cause
- Patients with progressive neurodegenerative symptoms
- Families with a known history of NBIA
- Couples with a genetic risk planning future pregnancies
Why is the Neurodegeneration with Brain Iron Accumulation Gene Panel Done?
- The test helps confirm the genetic cause of NBIA, enabling accurate diagnosis, appropriate symptom management, informed family counselling, and avoidance of unnecessary investigations.
Importance of the Neurodegeneration with Brain Iron Accumulation Gene Panel
- NBIA disorders are rare and often challenging to diagnose based on symptoms alone. Genetic confirmation helps clarify the exact subtype, predict disease progression, guide supportive treatment, and provide families with clear information about inheritance patterns and future risks.
Neurodegeneration with Brain Iron Accumulation Gene Panel Booking & Reports – Metropolis Healthcare
How to Book the Neurodegeneration with Brain Iron Accumulation Gene Panel and Get Your Reports?
- Simple Online Booking
Booking can be done through the Metropolis Healthcare App or website. Select the Neurodegeneration with Brain Iron Accumulation 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. - Safe Home Sample Collection
Trained phlebotomists collect your blood sample while strictly following safety and hygiene protocols. - Sample Tracking Updates
You receive updates at every stage, from sample collection to testing, through the Metropolis Healthcare platform. - Accurate Laboratory Testing
Your sample is processed at NABL and CAP accredited laboratories using advanced molecular diagnostic technology. - 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 Neurodegeneration with Brain Iron Accumulation Gene Panel Available Near You?
Yes, Metropolis Healthcare offers home sample collection for the Neurodegeneration with Brain Iron Accumulation Gene Panel. This service reduces travel, ensures professional sample handling, and maintains strict quality standards throughout the testing process.
How Long Does It Take to Get a Neurodegeneration with Brain Iron Accumulation 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 Neurodegeneration with Brain Iron Accumulation Gene Panel Results?
- You can view and download your test 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 Neurodegeneration with Brain Iron Accumulation Gene Panel Results
What Your Neurodegeneration with Brain Iron Accumulation Gene Panel Results May Indicate
| Parameter | Expected Finding | Pathogenic Variant Detected May Indicate | No Variant Detected May Indicate |
|---|---|---|---|
| NBIA related genes | No disease causing variant detected | Genetic NBIA subtype affecting brain iron metabolism | Symptoms may be due to other neurodegenerative conditions |
Understanding Abnormal Neurodegeneration with Brain Iron Accumulation Gene Panel Results by Gene Group
| Gene Group | What a Pathogenic Variant May Indicate |
|---|---|
| PANK2, COASY | Pantothenate kinase associated neurodegeneration |
| PLA2G6 | PLA2G6 associated neurodegeneration |
| C19orf12 | Mitochondrial membrane protein associated neurodegeneration |
| WDR45 | Beta propeller protein associated neurodegeneration |
| CP, FTL | Disorders of brain iron handling and storage |
How Should You Prepare for a Neurodegeneration with Brain Iron Accumulation Gene Panel?
This genetic test needs minimal preparation:
- No fasting required
- Maintain normal hydration
- Inform your doctor about current medications
- Share detailed clinical and family history
- Ensure test requisition and consent forms are completed
How Is a Neurodegeneration with Brain Iron Accumulation Gene Panel 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 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 genetic variants
Conditions That May Affect Neurodegeneration with Brain Iron Accumulation Gene Panel Accuracy
Certain patient related factors may influence interpretation:
- Recent blood transfusion
- Incomplete or unclear clinical history
- Mosaic genetic variants that are difficult to detect
- Variants of uncertain significance requiring further evaluation
Diseases That a Neurodegeneration with Brain Iron Accumulation Gene Panel Can Help Detect
- Pantothenate kinase associated neurodegeneration
- PLA2G6 associated neurodegeneration
- Mitochondrial membrane protein associated neurodegeneration
- Beta propeller protein associated neurodegeneration
- Other inherited NBIA disorders
References
- Gregory A., Hayflick S.J. (2013). Neurodegeneration with brain iron accumulation disorders overview. GeneReviews, University of Washington. PMID: 20301658
- Kruer M.C., Boddaert N., Schneider S.A., et al. (2012). Neuroimaging features of neurodegeneration with brain iron accumulation. AJNR American Journal of Neuroradiology, 33(3), 407–414. PMID: 22116112
- Hayflick S.J., Westaway S.K., Levinson B., et al. (2003). Genetic, clinical, and radiographic delineation of Hallervorden Spatz syndrome. New England Journal of Medicine, 348(1), 33–40. PMID: 12510038
- Schneider S.A., Hardy J., Bhatia K.P. (2009). Syndromes of neurodegeneration with brain iron accumulation. Movement Disorders, 24(8), 1143–1151. PMID: 19412928
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