Brain Malformations Gene Panel

Overview

The Brain Malformations Gene Panel is a specialized genetic test designed to identify disease-causing variants in genes associated with structural abnormalities of the brain. These conditions may affect brain development before birth and can lead to developmental delays, intellectual disability, epilepsy, movement disorders, and other neurological complications.

This test utilizes advanced Next-Generation Sequencing (NGS) technology to analyze multiple genes simultaneously, providing comprehensive genetic insights for accurate diagnosis and clinical management.

Test Details

• Sample Type: Peripheral Blood (EDTA)
• Method: Next-Generation Sequencing (NGS)
• Condition Screened: Congenital Brain Malformations
• Recommended For: Individuals with unexplained neurological symptoms, developmental disorders, or abnormal brain imaging findings

Common Conditions Evaluated

• Lissencephaly
• Polymicrogyria
• Pachygyria
• Holoprosencephaly
• Agenesis of Corpus Callosum
• Cortical Dysplasia
• Cerebellar Malformations
• Neuronal Migration Disorders
• Microcephaly associated with brain malformations

Symptoms That May Indicate Testing

• Developmental delay
• Intellectual disability
• Seizures or epilepsy
• Hypotonia (low muscle tone)
• Motor coordination difficulties
• Speech and language delays
• Abnormal MRI or CT brain findings
• Congenital neurological abnormalities

Benefits of the Test

✔ Comprehensive analysis of multiple brain malformation-related genes
✔ Supports accurate diagnosis and genetic counseling
✔ Helps guide treatment and long-term management
✔ Assists in family planning and recurrence risk assessment
✔ Reduces the need for multiple individual genetic tests

Who Should Consider This Test?

• Children with unexplained developmental delays
• Individuals with congenital brain abnormalities detected on imaging
• Patients with epilepsy linked to structural brain defects
• Families with a history of inherited neurological disorders
• Clinicians seeking molecular confirmation of brain malformation syndromes

Why Choose Advanced BioCare Laboratories?

• High-quality NGS-based genetic testing
• Expert interpretation by experienced molecular geneticists
• Reliable and accurate reporting
• Comprehensive genetic counseling support
• Fast turnaround time with quality-assured results

Early genetic diagnosis can provide valuable information for clinical management, prognosis assessment, and family counseling in individuals affected by brain malformations.