Neurology – NX-GEN

Neurology

Our neurology genetic testing panels use cutting-edge Next Generation Sequencing (NGS) technology to identify inherited mutations associated with neurological conditions. These tests help diagnose neurological disorders, guide treatment approaches, and provide valuable insights for both patients and healthcare providers managing neurological conditions.
Collection Centers
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Laboratories
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Tests Done
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Ataxia Telangiectasia
This test analyzes the ATM gene and related genes associated with Ataxia Telangiectasia, a rare condition affecting movement, coordination, and immune system function. Recommended for individuals showing early signs of balance problems, recurring infections, or those with a family history of the condition.
Neurofibromatosis
Our comprehensive NGS analysis examines genes associated with different types of Neurofibromatosis, including NF1, NF2, and Schwannomatosis. This test is crucial for individuals with skin changes, nerve tumors, or a family history of these conditions, helping guide early intervention and management strategies.
Spinal Muscular Atrophies
This specialized test analyzes genes including SMN1 and SMN2, responsible for spinal muscular atrophy (SMA). Recommended for individuals showing muscle weakness, decreased muscle tone, or those with a family history of SMA, particularly important for early diagnosis and treatment planning.
Arthrogryposis and Congenital Myasthenic Syndrome
Our panel examines genes associated with Arthrogryposis (joint contractures present at birth) and Congenital Myasthenic Syndrome (inherited neuromuscular junction disorders). Essential for newborns with joint contractures, muscle weakness, or breathing difficulties, and families planning future pregnancies.
Rett Syndrome
This test analyzes the MECP2 gene and related genes associated with Rett Syndrome, a rare genetic neurological disorder affecting brain development. Recommended for young children, particularly girls, showing developmental regression, hand movement issues, or breathing irregularities.
Aicardi-Goutieres Syndrome
Our NGS panel examines genes linked to Aicardi-Goutieres Syndrome, a rare inflammatory condition affecting brain development. Crucial for infants showing early developmental problems, unexplained fever, or neurological symptoms, helping guide treatment and management strategies.
Amyotrophic Lateral Sclerosis
This comprehensive test analyzes genes associated with both familial and sporadic ALS, including SOD1, C9orf72, and other relevant genes. Recommended for individuals showing signs of progressive muscle weakness, family history of ALS, or those seeking to understand their genetic risk.
Epileptic Encephalopathy
Our specialized panel examines genes associated with various forms of epileptic encephalopathy, including early infantile epileptic encephalopathy. Essential for infants and children with early-onset seizures, developmental delays, or those not responding to standard treatments.
Comprehensive Epilepsy
This extensive NGS panel analyzes multiple genes associated with various forms of epilepsy. Recommended for individuals with unexplained seizures, family history of epilepsy, or those seeking more precise treatment targeting their specific genetic variant.
Neuronal Migration Disorders
Our test examines genes involved in brain development and neuronal migration. Crucial for individuals with brain malformations, developmental delays, or seizures, helping understand the genetic basis of these complex conditions.
Parkinson and Early Onset Parkinson Disease
This comprehensive panel analyzes genes associated with both traditional and early-onset Parkinson's disease. Recommended for individuals showing early signs of Parkinson's, those with family history, or early-onset cases before age 50.
Dystonia
Our NGS panel examines genes associated with various forms of dystonia, a movement disorder causing involuntary muscle contractions. Essential for individuals experiencing unusual movements, postures, or those with family history of movement disorders.
Hereditary Spastic Paraplegia
This test analyzes genes associated with hereditary spastic paraplegia, characterized by progressive leg weakness and spasticity. Recommended for individuals with progressive walking difficulties, family history, or early-onset symptoms.
Hyperekplexia
Our specialized panel examines genes associated with Hyperekplexia, a neurological disorder causing exaggerated startle responses. Important for newborns with unusual startle reactions, muscle stiffness, or those with family history of similar symptoms.
Charcot Marie Tooth and Sensory Neuropathies
This comprehensive test analyzes genes associated with inherited peripheral neuropathies. Recommended for individuals experiencing progressive muscle weakness, sensory problems, or those with family history of similar conditions.
Congenital Muscular Dystrophies and Myopathies
Our panel examines genes linked to various forms of congenital muscular disorders. Essential for infants showing early muscle weakness, developmental delays, or those with family history of muscle disorders.
Alzheimer Disease
This NGS panel analyzes genes associated with both early-onset and familial Alzheimer's disease. Recommended for individuals with early memory problems, family history of early-onset Alzheimer's, or those seeking to understand their genetic risk.
Spinocerebellar Ataxia
Our comprehensive test examines genes associated with various forms of spinocerebellar ataxia. Essential for individuals showing progressive balance and coordination problems, speech difficulties, or those with family history of ataxia.

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