Lissencephaly Gene Panel
Lissencephaly gene panel Price
Brief Details
What is the Lissencephaly Gene Panel?
The Lissencephaly Gene Panel is a genetic blood test used to identify inherited conditions that affect normal brain development. Lissencephaly is a brain malformation disorder where the surface of the brain appears smooth due to abnormal neuronal migration during early development.
This test analyses multiple genes associated with cortical development using Next Generation Sequencing technology. It requires an EDTA blood sample and helps doctors confirm a genetic diagnosis, understand disease type, and assess risks for other family members.
What Does the Lissencephaly Gene Panel Measure?
This genetic test evaluates changes in genes involved in brain formation and neuronal migration:
- Detection of disease causing variants linked to lissencephaly
- Differentiation of lissencephaly from other cortical migration disorders
- Identification of inherited causes of severe developmental delay and seizures
- Support for clinical diagnosis and long term neurological care planning
- Guidance for genetic counselling, family screening, and prenatal evaluation
Lissencephaly Gene Panel: Who Needs It and Why It’s Done
What Symptoms May Call for a Lissencephaly Gene Panel?
Doctors may recommend this test if you or your child experience symptoms such as:
- Severe developmental delay from infancy
- Seizures that begin early in life
- Poor muscle tone or abnormal stiffness
- Feeding difficulties and failure to thrive
- Abnormal brain imaging findings on MRI
Who Should Get a Lissencephaly Gene Panel?
- Infants or children with suspected brain malformation disorders
- Individuals with MRI findings suggestive of lissencephaly
- Patients with unexplained seizures and developmental delay
- Individuals with a family history of cortical development disorders
- Couples planning a pregnancy with known genetic risk
Why is a Lissencephaly Gene Panel Done?
The test helps identify the genetic cause of lissencephaly, allowing accurate diagnosis, appropriate medical care, and informed family planning decisions.
Importance of the Lissencephaly Gene Panel
Early and precise diagnosis of lissencephaly is important for guiding medical care, seizure management, and developmental support. This gene panel enables identification of the underlying genetic condition, helping your doctor predict disease course, avoid unnecessary investigations, and provide appropriate counselling for long term care and family risk assessment.
Lissencephaly Gene Panel Booking & Reports – Metropolis Healthcare
How to Book the Lissencephaly Gene Panel and Get Your Reports?
- Simple Online Booking
Booking can be done through the Metropolis Healthcare App or website. Select the Lissencephaly 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 Lissencephaly Gene Panel Available Near You?
Yes, Metropolis Healthcare offers home sample collection for the Lissencephaly 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 Lissencephaly 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 Lissencephaly Gene Panel Results?
- Metropolis Healthcare website or mobile app
You can access your test results through the Metropolis Healthcare website or mobile app using your login credentials. - Email or WhatsApp
Reports are also shared via email or WhatsApp. - Physical copy from the lab
You may collect a physical copy directly from the Metropolis Lab if required.
Interpreting Lissencephaly Gene Panel Results
What Your Lissencephaly Gene Panel Results May Indicate
| Parameter | Expected Finding | Pathogenic Variant Detected May Indicate | No Variant Detected May Indicate |
|---|---|---|---|
| Lissencephaly related genes | No disease causing variant detected | Genetic lissencephaly or related cortical migration disorder | Symptoms may be due to other neurological or genetic conditions |
Understanding Abnormal Lissencephaly Gene Panel Test Results
| Gene Group | What a Pathogenic Variant May Indicate |
|---|---|
| DCX, PAFAH1B1, TUBA1A | Classic lissencephaly with severe cortical malformation |
| RELN, VLDLR | Reelin pathway disorders affecting neuronal migration |
| ARX, WDR62, DYNC1H1 | Complex brain development disorders with seizures |
| POMT and POMGNT genes | Muscular dystrophy associated lissencephaly spectrum |
How Should You Prepare for a Lissencephaly 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 Lissencephaly 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 lissencephaly.
Conditions That May Affect Lissencephaly 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 Lissencephaly Gene Panel Can Help Detect
- Lissencephaly
- Cortical migration disorders
- Neuronal development disorders
- Genetic brain malformation syndromes
References
- Guerrini R., Parrini E. (2010). Neuronal migration disorders. Neurobiology of Disease, 38(2), 154–166. PMID: 20096383
- Dobyns W.B., Mirzaa G.M. (2019). Megalencephaly and related cortical malformations. Nature Reviews Neurology, 15(10), 585–601. PMID: 31406348
- Poirier K., Saillour Y., Bahi Buisson N., et al. (2007). Mutations in the neuronal migration gene DCX cause lissencephaly. Human Molecular Genetics, 16(19), 2306–2314. PMID: 17666540
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