TEST CODE: 008838

DIAGNOSTIC TEST FOR: NEUROLOGY

TURNAROUND TIME: 10–21 calendar days (14 days on average)

PREFERRED SPECIMEN: 3mL whole blood in a purple-top tube

ALTERNATE SPECIMENS: DNA or saliva/assisted saliva

Genetic testing for Neurology

Our panels include over 3,900 genes selected based on curated gene reviews, variant databases (HGMD and ClinVar), most recent literature, and customer requests. We offer enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels. Difficult-to-sequence genes are covered with high quality enabling true diagnostic impact in challenging patient cases.
Genetic testing in the field of neurology is becoming increasingly beneficial. NGS panels can lead to a notable increase in the diagnostic success rate, as well as potentially more rapid diagnoses, which has implications for health service economics and improved patient satisfaction.
Genetic testing using targeted capture followed by NGS is an efficient and cost-effective method of molecular diagnosis in many refractory ataxia cases (PMID: 24030952). Furthermore, genetic diagnosis using well-designed NGS panels has expanded the phenotypic spectrum of many genes to cover a broader range of diseases than ever before. With the current technology and careful interpretation of the detected variants, mutations in the same genes can be associated with a broad range of clinical and neuroimaging phenotypes.

What genetic diagnostics can be offered to patients with neurological diseases?

All of the main neurological disease categories have a large number of subtypes with extensive phenotypic overlap, which complicates traditional clinical diagnosis. For example, disorders that were thought to be separate entities may actually represent a phenotypic continuum of a single entity, as was shown with Bethlem myopathy and Ullrich congenital muscular dystrophy. Genetic diagnostics is the most efficient way to subtype neurological diseases, and provides the necessary information to make confident individualized treatment and management decisions.
Living with a set of symptoms and findings without a definitive diagnosis can be stressful for patients, so finding a genetic cause may end a long diagnostic odyssey, and in many cases, a definite name may be relieving. Genetic diagnosis in neurological diseases has significant prognostic value, as disease progression can often be evaluated based on the underlying genetic defect.

What are the benefits of genetic testing?

Genetic testing produces information that may help you or your healthcare provider:
– establish or confirm your specific diagnosis
– provide an explanation of the underlying cause 
of your heart condition
– uncover potential risk of developing an underlying, multi-system condition that affects more than your heart
– make informed medical decisions and provide an opportunity to start risk reduction strategies
– identify other at-risk relatives for whom genetic testing is recommended
– make informed family planning decisions 


Genomed’s Neurology panels

CLINICAL AREA: CARDIOLOGY AND NEUROLOGY MOVEMENT DISORDERS

– Dystonia Comprehensive Panel
– Hereditary Parkinson’s Disease and Parkinsonism Panel

NEURODEGENERATIVE DISORDERS

– Combined Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel
– Amyotrophic Lateral Sclerosis Panel
– Frontotemporal Dementia Panel
– Hereditary Alzheimer’s Disease Panel
– Hereditary Parkinson’s Disease and Parkinsonism Panel
– Hereditary Prion Disease Test

NEUROMUSCULAR DISORDERS

– Comprehensive Neuromuscular Disorders Panel
– Congenital Myasthenic Syndrome Panel
– Malignant Hyperthermia Susceptibility Panel
– Comprehensive Muscular Dystrophy Panel
– Congenital Muscular Dystrophy Panel
– Dystroglycanopathy Panel
– Dystrophinopathies Test
– Emery-Dreifuss Muscular Dystrophy Panel
– Limb-Girdle Muscular Dystrophy Panel
– Comprehensive Myopathy Panel
– Congenital Myopathy Panel
– Autophagic Vacuolar Myopathy Panel
– Central Core Disease Test
– Centronuclear Myopathy Panel
– Congenital Fiber-Type Disproportion Panel
– Distal Myopathy Panel
– Inclusion Body Myopathy Panel
– Multiminicore Disease Panel
– Myofibrillar Myopathy Panel
– Nemaline Myopathy Panel
– Periodic Paralysis Panel
– Type VI Collagenopathy Panel
– Myotonia Congenita
– Myotonia and Paramyotonia Congenita Panel
– Spinal Muscular Atrophy STAT Panel
– Spinal Muscular Atrophy Panel

NEUROPATHIES AND RELATED DISORDERS

– Comprehensive Neuropathies Panel
– Charcot-Marie-Tooth Disease Comprehensive Panel
– Charcot-Marie-Tooth Disease Autosomal Dominant Panel
– Charcot-Marie-Tooth Disease Autosomal Recessive Panel
– Charcot-Marie-Tooth Disease X-linked Panel
– Hereditary Sensory and Autonomic Neuropathy Panel
– Familial Dysautonomia Test
– Hereditary Motor Neuropathy Panel
– Spinal Muscular Atrophy Panel
– Spinal Muscular Atrophy STAT Panel
– Small Fiber Neuropathy Test
– Riboflavin Transporter Deficiency Neuronopathy Panel
– Hereditary Spastic Paraplegia Comprehensive Panel
– Hereditary Spastic Paraplegia Autosomal Dominant Panel
– Hereditary Spastic Paraplegia Autosomal Recessive Panel
– Hereditary Spastic Paraplegia X-linked Panel

CARDIOMYOPATHY AND SKELETAL MUSCLE DISEASE

– Cardiomyopathy and Skeletal Muscle Disease Panel

CLINICAL AREA: EPILEPSY

EPILEPSY AND SEIZURES
– Epilepsy Panel

CLINICAL AREA: PEDIATRIC AND RARE DISEASE
DEVELOPMENTAL BRAIN ABNORMALITIES

– Leukodystrophy and Genetic Leukoencephalopathy Panel
– Cerebral Palsy Spectrum Disorders Panel
– Alternating Hemiplegia of Childhood Panel
– Baraitser-Winter Cerebrofrontofacial Syndrome Panel
– Cerebral Cavernous Malformations Panel
– CHARGE Syndrome Test
– Early Infantile Epileptic Encephalopathy Panel
– Holoprosencephaly Panel
– Rett and Angelman Syndromes and Related Disorders Panel
– Tuberous Sclerosis Complex Panel

Please contact us for the complete list of genes included on the multi-Neurology panel and associated conditions.

What are the potential results?

A POSITIVE TEST RESULT CAN:
If testing identifies a variant associated with heart disease, consult with your healthcare provider to create a management plan and to identify relatives who may need to be tested.

A NEGATIVE TEST RESULT:
If testing identifies no variants associated with a hereditary heart disease, the underlying cause of your heart condition remains unknown. As our knowledge of genetics improves, additional genetic testing may become available.

AN UNCERTAIN VARIANT TEST RESULT:
In some cases, testing can identify a variant, but it is not known at this time whether the variant is associated with heart disease. If new information about your family history of heart conditions becomes available, this could change what your test results mean for you and your relatives. Always let your healthcare provider know if there are any updates regarding your family medical history.

Take action based on your results.

With Genomed, you can make health decisions based on your results. Our medical-grade tests are the same tests used by doctors and genetic counselors. Based on your results, you can work with your healthcare provider to consider:
– increased or earlier screenings
– lifestyle modifications
– early intervention to prevent the onset of disease