Hereditary Spastic Paraplegia Gene Panel
Hereditary Spastic Paraplegia Gene Panel Price
Brief Details
What is the Hereditary Spastic Paraplegia Gene Panel?
The Hereditary Spastic Paraplegia Gene Panel is a genetic blood test designed to identify inherited causes of hereditary spastic paraplegia (HSP), a group of neurodegenerative disorders characterised by progressive stiffness and weakness of the lower limbs.
HSP can present as a pure form (primarily affecting the legs) or a complex form associated with additional neurological features such as seizures, cognitive impairment, ataxia, neuropathy, or vision problems. This test uses advanced Next Generation Sequencing technology to analyse multiple genes known to be associated with HSP.
What Does the Hereditary Spastic Paraplegia Gene Panel Measure?
This genetic test evaluates disease-causing variants linked to motor neuron and axonal degeneration:
- Detection of pathogenic variants causing hereditary spastic paraplegia
- Differentiation between pure and complex HSP subtypes
- Distinction of HSP from other neurodegenerative or neuromuscular disorders
- Support for prognosis and long-term care planning
- Guidance for genetic counselling, family screening, and reproductive planning
Hereditary Spastic Paraplegia Gene Panel: Who Needs It and Why It’s Done
What Symptoms May Call for a Hereditary Spastic Paraplegia Gene Panel?
Doctors may recommend this test if an individual presents with:
- Progressive stiffness and weakness of the legs
- Difficulty walking, frequent falls, or gait abnormalities
- Increased muscle tone or spasticity
- Bladder dysfunction or urinary urgency
- Associated neurological features such as ataxia, seizures, neuropathy, or cognitive decline
Who Should Get a Hereditary Spastic Paraplegia Gene Panel?
This test may be advised for:
- Individuals with suspected hereditary spastic paraplegia
- Patients with early-onset or unexplained progressive spasticity
- Individuals with a family history of spastic paraplegia or related disorders
- Patients with inconclusive imaging or electrophysiological studies
- Couples with known genetic risk planning pregnancy
Why is the Hereditary Spastic Paraplegia Gene Panel Done?
- The test confirms the genetic basis of hereditary spastic paraplegia, enabling accurate diagnosis, avoidance of unnecessary investigations, appropriate management, and informed family counselling.
Importance of the Hereditary Spastic Paraplegia Gene Panel
- Hereditary spastic paraplegia shows wide clinical and genetic diversity. Identifying the underlying gene mutation helps clinicians predict disease course, tailor supportive therapy, guide rehabilitation strategies, and counsel families regarding inheritance patterns and recurrence risks. Early genetic confirmation also assists in differentiating HSP from treatable or reversible neurological conditions.
Hereditary Spastic Paraplegia Gene Panel Booking & Reports – Metropolis Healthcare
How to Book the Hereditary Spastic Paraplegia Gene Panel and Get Your Reports?
- Simple Online Booking
Book through the Metropolis Healthcare website or mobile app. Choose the Hereditary Spastic Paraplegia Gene Panel, select a convenient slot, and opt for home collection or lab visit. - Safe Sample Collection
Blood samples are collected by trained professionals using strict safety and hygiene protocols. - Sample Tracking Updates
Receive regular updates from sample collection to report generation. - Advanced Laboratory Testing
Testing is performed at NABL and CAP accredited laboratories using state-of-the-art molecular diagnostics. - Easy Access to Reports
Reports are delivered via email, WhatsApp, or downloadable from the Metropolis platform.
Interpreting Hereditary Spastic Paraplegia Gene Panel Results
What Your Hereditary Spastic Paraplegia Gene Panel Results May Indicate
| Parameter | Expected Finding | Pathogenic Variant Detected May Indicate | No Variant Detected May Indicate |
|---|---|---|---|
| HSP-related genes | No disease-causing variant detected | Hereditary spastic paraplegia or related neurodegenerative disorder | Symptoms may be due to other genetic or acquired neurological conditions |
Understanding Abnormal Hereditary Spastic Paraplegia Gene Panel Results
| Gene Group | What a Pathogenic Variant May Indicate |
|---|---|
| SPAST, ATL1, SPG11, SPG7 | Common genetic causes of pure or complex HSP |
| KIF1A, KIF5A, REEP genes | Axonal transport and motor neuron dysfunction |
| FA2H, PNPLA6, CYP7B1 | Complex HSP with metabolic or neurodegenerative features |
How Should You Prepare for a Hereditary Spastic Paraplegia Gene Panel?
- No fasting required
- Maintain normal hydration
- Inform your clinician about medications or supplements
- Provide detailed clinical and family history
- Ensure test requisition form and consent are completed
How Is the Hereditary Spastic Paraplegia Gene Panel Done?
- Preparation: A tourniquet is applied to identify a vein
- Cleaning: The site is cleaned with antiseptic
- Sample Collection: 3–5 ml of blood is collected into an EDTA vacutainer
- Completion: Bandage applied after needle removal
- Analysis: DNA is analysed using Next Generation Sequencing
Conditions That May Affect Test Accuracy
- Recent blood transfusion
- Incomplete clinical history
- Low-level mosaic variants
- Variants of uncertain significance requiring further evaluation
Diseases That the Hereditary Spastic Paraplegia Gene Panel Can Help Detect
- Pure hereditary spastic paraplegia
- Complex hereditary spastic paraplegia
- Overlapping neurodegenerative and motor neuron disorders
References
- Fink J.K. (2013). Hereditary spastic paraplegia clinical principles and genetic advances. Seminars in Neurology, 33(3), 293–305. PMID: 24072569
- Blackstone C. (2018). Hereditary spastic paraplegia genes and mechanisms. Neurobiology of Disease, 109, 59–67. PMID: 28756231
- Depienne C., Stevanin G., Brice A., et al. (2007). Hereditary spastic paraplegias an update. Journal of Neurology, 254(5), 523–534. PMID: 17530490
Frequently asked questions
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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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