Neurology
There are hundreds of genetic conditions that affect the neurological system, including conditions of the brain, muscle, and nerves. Invitae’s neurological genetic testing can provide genetic insights to help guide treatment decisions, inform opportunities to participate in clinical trials, and identify at-risk family members who may also benefit from genetic testing.
Categories
Invitae Spinal Muscular Atrophy STAT Panel
Invitae Spinal Muscular Atrophy STAT Panel
Test code: 73000 • 4 calendar days
Analyze the copy number of two genes: SMN1, which is associated with spinal muscular atrophy (SMA), and SMN2, which modifies the clinical phenotype. This test does not detect SMN1 sequence variants.
Invitae Comprehensive Neuropathies Panel
Invitae Comprehensive Neuropathies Panel
Test code: 03200 • 10–21 days turnaround time
The Invitae Comprehensive Neuropathies Panel analyzes genes that are associated with hereditary neuropathies, including but not limited to Charcot-Marie-Tooth disease (CMT), hereditary motor neuropathy (HMN), and hereditary sensory and autonomic neuropathy (HSAN).
Primary panel (102 genes)
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Invitae Charcot-Marie-Tooth Disease Comprehensive Panel
Invitae Charcot-Marie-Tooth Disease Comprehensive Panel
Test code: 03201 • 10–21 days turnaround time
The Invitae Charcot-Marie-Tooth Disease Comprehensive Panel analyzes genes that are associated with Charcot-Marie-Tooth disease (CMT), a group of hereditary neuropathies characterized by progressive muscle weakness and sensory loss in the arms and legs.
Primary panel (57 genes)
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Add-ons can be included at no additional charge.
Invitae Small Fiber Neuropathy Test
Invitae Small Fiber Neuropathy Test
Test code: 03220 • 10–21 days turnaround time
Genetic testing for up to two genes that are known to be associated with small fiber neuropathy (SFNP).
Primary panel (1 gene)
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Add-ons can be included at no additional charge.
Invitae Hereditary Sensory and Autonomic Neuropathy Panel
Invitae Hereditary Sensory and Autonomic Neuropathy Panel
Test code: 03230 • 10–21 days turnaround time
The Invitae Hereditary Sensory and Autonomic Neuropathy Panel analyze genes associated with hereditary sensory and autonomic neuropathy (HSAN) and hereditary sensory neuropathy (HSN), a clinically and genetically heterogeneous group of peripheral nervous system conditions characterized by sensory dysfunction with or without autonomic dysfunction.
Primary panel (15 genes)
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Add-ons can be included at no additional charge.
Invitae Hereditary Motor Neuropathy Panel
Invitae Hereditary Motor Neuropathy Panel
Test code: 03240 • 10–21 days turnaround time
The Invitae Hereditary Motor Neuropathy Panel analyzes genes associated with hereditary motor neuropathy (HMN), a clinically and genetically heterogeneous group of conditions characterized by loss of motor neurons within the spinal cord resulting in weakness and muscle wasting.
Primary panel (27 genes)
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Add-ons can be included at no additional charge.
Invitae Spinal Muscular Atrophy Panel
Invitae Spinal Muscular Atrophy Panel
Test code: 03245 • 10–21 days turnaround time
The Invitae Spinal Muscular Atrophy panel analyzes SMN1, which is associated with spinal muscular atrophy (SMA), and SMN2, which modifies the clinical phenotype.
Invitae Hereditary Spastic Paraplegia Comprehensive Panel
Invitae Hereditary Spastic Paraplegia Comprehensive Panel
Test code: 03251 • 10–21 days turnaround time
The Invitae Hereditary Spastic Paraplegia Comprehensive Panel analyzes genes associated with hereditary spastic paraplegia (HSP), a clinically and genetically heterogeneous group of neurological conditions characterized by lower-extremity spastic weakness.
Primary panel (62 genes)
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Add-ons can be included at no additional charge.
Invitae Familial Dysautonomia Test
Invitae Familial Dysautonomia Test
Test code: 03461 • 10–21 days turnaround time
Genetic testing for ELP1 (formerly known as IKBKAP) deletions/duplications and sequence variants which cause familial dysautonomia (FD).
Invitae Dystonia Comprehensive Panel
Invitae Dystonia Comprehensive Panel
Test code: 03351 • 10–21 days turnaround time
The Invitae Dystonia Comprehensive Panel analyzes genes that are associated with dystonia, a group of conditions characterized by sustained muscle contractions that lead to abnormal postures and repetitive movements.
Primary panel (38 genes)
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Add-ons can be included at no additional charge.
Invitae Hereditary Parkinson Disease and Parkinsonism Panel
Invitae Hereditary Parkinson Disease and Parkinsonism Panel
Test code: 03352 • 10–21 days turnaround time
The Invitae Hereditary Parkinson Disease and Parkinsonism Panel analyzes genes that are associated with Parkinson disease and related conditions involving parkinsonian features.
Primary panel (26 genes)
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Add-ons can be included at no additional charge.
Invitae Hereditary Amyotrophic Lateral Sclerosis, Frontotemporal Dementia and Alzheimer Disease Panel
Invitae Hereditary Amyotrophic Lateral Sclerosis, Frontotemporal Dementia and Alzheimer Disease Panel
Test code: 03502 • 10–21 days turnaround time
The Invitae Hereditary Amyotrophic Lateral Sclerosis, Frontotemporal Dementia and Alzheimer Disease Panel analyzes genes that are associated with progressive neurodegenerative conditions affecting the nervous system, including but not limited to hereditary dementia and/or amyotrophic lateral sclerosis (ALS). This test does not include analysis of the C9orf72 gene. Please refer to the Alternative Tests to Consider section under test details for tests which include the C9orf72 gene.
Primary panel (33 genes)
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Add-ons can be included at no additional charge.
Invitae Amyotrophic Lateral Sclerosis Panel
Invitae Amyotrophic Lateral Sclerosis Panel
Test code: 03503 • 10–21 days turnaround time
The Invitae Amyotrophic Lateral Sclerosis Panel analyzes genes that are associated with amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative condition involving loss of upper and lower motor neurons. This test does not include analysis of the C9orf72 gene. Please refer to the Alternative Tests to Consider section under test details for tests which include the C9orf72 gene.
Primary panel (21 genes)
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Add-ons can be included at no additional charge.
Invitae Frontotemporal Dementia Panel
Invitae Frontotemporal Dementia Panel
Test code: 03505 • 10–21 days turnaround time
The Invitae Frontotemporal Dementia Panel analyzes genes that are associated with frontotemporal dementia (FTD), a neurodegenerative condition characterized by progressive behavioral and cognitive impairment. This test does not include analysis of the C9orf72 gene. Please refer to the Alternative Tests to Consider section under test details for tests which include the C9orf72 gene.
Primary panel (13 genes)
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Add-ons can be included at no additional charge.
Invitae Frontotemporal Dementia with C9orf72 Panel
Invitae Frontotemporal Dementia with C9orf72 Panel
Test code: 444000 • 10–21 days turnaround time
The Invitae Frontotemporal Dementia with C9orf72 Panel analyzes genes that are associated with frontotemporal dementia (FTD), a neurodegenerative condition characterized by progressive behavioral and cognitive impairment. This test includes repeat expansion analysis of the C9orf72 gene.
Primary panel (14 genes)
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Add-ons can be included at no additional charge.
Invitae Hereditary Amyotrophic Lateral Sclerosis, Frontotemporal Dementia and Alzheimer Disease with C9orf72 Panel
Invitae Hereditary Amyotrophic Lateral Sclerosis, Frontotemporal Dementia and Alzheimer Disease with C9orf72 Panel
Test code: 444004 • 10–21 days turnaround time
Invitae Hereditary Amyotrophic Lateral Sclerosis, Frontotemporal Dementia and Alzheimer Disease with C9orf72 Panel analyzes genes that are associated with progressive neurodegenerative conditions affecting the nervous system, including but not limited to hereditary dementia and/or amyotrophic lateral sclerosis (ALS). This test includes repeat expansion analysis of the C9orf72 gene.
Primary panel (34 genes)
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Add-ons can be included at no additional charge.
Invitae C9orf72-related Frontotemporal Dementia and Amyotrophic Lateral Sclerosis Repeat Expansion Test
Invitae C9orf72-related Frontotemporal Dementia and Amyotrophic Lateral Sclerosis Repeat Expansion Test
Test code: 444006 • 10–21 days turnaround time
The Invitae C9orf72-related Frontotemporal Dementia and Amyotrophic Lateral Sclerosis Repeat Expansion Test analyzes for hexanucleotide (GGGGCC) repeat expansions within an intronic region of the C9orf72 gene.
Invitae Hereditary Alzheimer's Disease Panel
Invitae Hereditary Alzheimer's Disease Panel
Test code: 03504 • 10–21 days turnaround time
Genetic testing for the 3 genes most commonly associated with hereditary Alzheimer’s disease.
Invitae Hereditary Prion Disease Test
Invitae Hereditary Prion Disease Test
Test code: 03506 • 10–21 days turnaround time
Genetic testing for the PRNP gene, which is the only known cause of hereditary prion disease.
Invitae Familial Hemiplegic Migraine Panel
Invitae Familial Hemiplegic Migraine Panel
Test code: 53700 • 10–21 days turnaround time
The Invitae Familial Hemiplegic Migraine Panel analyzes genes that are associated with familial hemiplegic migraine, alternating hemiplegia of childhood, and other related conditions.
Primary panel (7 genes)
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Add-ons can be included at no additional charge.
Invitae Hereditary Cerebral Small Vessel Disease Panel
Invitae Hereditary Cerebral Small Vessel Disease Panel
Test code: 53701 • 10–21 days turnaround time
The Invitae Hereditary Cerebral Small Vessel Disease Panel analyzes genes that are associated with hereditary forms of cerebral small vessel disease, encompassing conditions affecting the small arteries, arterioles, venules, and capillaries of the brain.
Invitae Hereditary Moyamoya Disease Panel
Invitae Hereditary Moyamoya Disease Panel
Test code: 53702 • 10–21 days turnaround time
Invitae Hereditary Moyamoya Disease Panel analyzes genes that are associated with hereditary moyamoya disease, a rare chronic cerebrovascular condition.
Primary panel (2 genes)
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Add-ons can be included at no additional charge.
Invitae Septo-optic Dysplasia Panel
Invitae Septo-optic Dysplasia Panel
Test code: 434349 • 10–21 days turnaround time
The Invitae Septo-optic Dysplasia Panel analyzes genes that are associated with disorders causing septo-optic dysplasia and conditions with similar clinical presentation. These are genetically heterogeneous disorders characterized primarily by hypoplasia of the optic nerves, abnormal formation of structures along the midline of the brain, and pituitary hypoplasia. These genes were selected based on the available evidence to date to provide a broad analysis for inherited septo-optic dysplasia.
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel
Test code: 55002 • 10–21 days turnaround time
Genetic testing for genes associated with leukodystrophy or genetic leukoencephalopathy.
Primary panel (697 genes)
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Add-ons can be included at no additional charge.
Invitae Cerebral Palsy Spectrum Disorders Panel
Invitae Cerebral Palsy Spectrum Disorders Panel
Test code: 55004 • 10–21 days turnaround time
The Invitae Cerebral Palsy Spectrum Disorders Panel analyzes a broad panel of genes to determine the underlying etiology of cerebral palsy (CP).
Invitae Brain Malformations Panel
Invitae Brain Malformations Panel
Test code: 55006 • 10–21 days turnaround time
Analyzes genes that are associated with brain malformations including holoprosencephaly, lissencephaly, polymicrogyria, cerebral cavernous malformations, and/or cortical, cerebellar, and corpus callosum malformations.
Invitae Baraitser-Winter Cerebrofrontofacial Syndrome Panel
Invitae Baraitser-Winter Cerebrofrontofacial Syndrome Panel
Test code: 04741 • 10–21 days turnaround time
Genetic testing for two genes known to be associated with Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome, which is characterized by distinctive craniofacial features and intellectual disability.
Invitae Cerebral Cavernous Malformations Panel
Invitae Cerebral Cavernous Malformations Panel
Test code: 04422 • 10–21 days turnaround time
Genetic testing for three genes that are associated with familial cerebral cavernous malformations (CCM).
Invitae Holoprosencephaly Panel
Invitae Holoprosencephaly Panel
Test code: 04424 • 10–21 days turnaround time
Genetic testing for up to 10 genes that are associated with holoprosencephaly (HPE), a spectrum of brain malformations ranging from a single central upper incisor to complete failed separation of the cerebral hemispheres.
Primary panel (6 genes)
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Add-ons can be included at no additional charge.
Invitae Rett and Angelman Syndromes and Related Disorders Panel
Invitae Rett and Angelman Syndromes and Related Disorders Panel
Test code: 03404 • 10–21 days turnaround time
The Invitae Rett and Angelman Syndromes and Related Disorders Panel analyzes genes that are associated with early-onset developmental disorders related to the Rett/Angelman spectrum.
Invitae Tuberous Sclerosis Complex Panel
Invitae Tuberous Sclerosis Complex Panel
Test code: 01721 • 10–21 days turnaround time
Analyzes genes associated with tuberous sclerosis complex.
Invitae Epilepsy Panel
Invitae Epilepsy Panel
Test code: 03401 • 10–21 days turnaround time
The Invitae Epilepsy Panel analyzes genes that are associated with both syndromic and nonsyndromic causes of epilepsy, a common neurological disease characterized by recurrent, unprovoked seizures.
Primary panel (302 genes)
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Add-ons can be included at no additional charge.
Invitae FMR1-Fragile X Syndrome and Related Disorders Repeat Expansion Test
Invitae FMR1-Fragile X Syndrome and Related Disorders Repeat Expansion Test
Test code: 56022 • 10–21 days turnaround time
The Invitae FMR1-Fragile X Syndrome and Related Disorders Repeat Expansion Test analyzes for trinucleotide (CGG) repeat expansions within the 5' untranslated region of the FMR1 gene.
Invitae Neurodevelopmental Disorders (NDD) Panel
Invitae Neurodevelopmental Disorders (NDD) Panel
Test code: 728434 • 10–21 days turnaround time
Analyzes genes associated with developmental delay, intellectual disability, and autism spectrum disorder.
Invitae Comprehensive Neuromuscular Disorders Panel
Invitae Comprehensive Neuromuscular Disorders Panel
Test code: 03280 • 10–21 days turnaround time
Invitae Comprehensive Neuromuscular Disorders Panel analyzes genes that are associated with hereditary neuromuscular conditions, including but not limited to muscular dystrophies, inherited myopathies, mitochondrial disorders, congenital myasthenic syndromes, and rhabdomyolysis.
Primary panel (211 genes)
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Add-ons can be included at no additional charge.
Invitae Congenital Myasthenic Syndrome Panel
Invitae Congenital Myasthenic Syndrome Panel
Test code: 03281 • 10–21 days turnaround time
The Invitae Congenital Myasthenic Syndrome Panel analyzes genes that are associated with congenital myasthenic syndrome (CMS), a heterogeneous group of neuromuscular conditions characterized by fatigable weakness of the skeletal muscles and variable presentation of numerous other features.
Primary panel (21 genes)
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Add-ons can be included at no additional charge.
Invitae Malignant Hyperthermia Susceptibility Panel
Invitae Malignant Hyperthermia Susceptibility Panel
Test code: 03285 • 10–21 days turnaround time
The Invitae Malignant Hyperthermia Susceptibility Panel analyzes genes that are associated with malignant hyperthermia, a pharmacogenetic condition of skeletal muscle.
Invitae Comprehensive Muscular Dystrophy Panel
Invitae Comprehensive Muscular Dystrophy Panel
Test code: 03291 • 10–21 days turnaround time
The Invitae Comprehensive Muscular Dystrophy Panel analyzes genes that are associated with inherited muscular dystrophies, a heterogeneous group of neuromuscular conditions that are characterized by weakness and wasting due to muscle dysfunction.
Primary panel (53 genes)
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Add-ons can be included at no additional charge.
Invitae Congenital Muscular Dystrophy Panel
Invitae Congenital Muscular Dystrophy Panel
Test code: 03292 • 10–21 days turnaround time
The Invitae Congenital Muscular Dystrophy Panel analyzes genes that are associated with congenital muscular dystrophies, a heterogeneous group of neuromuscular conditions with widely variable symptom severity.
Invitae Dystrophinopathies Test
Invitae Dystrophinopathies Test
Test code: 03301 • 10–21 days turnaround time
Genetic testing for DMD, associated with Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and dilated cardiomyopathy (DCM).
Invitae Limb-Girdle Muscular Dystrophy Panel
Invitae Limb-Girdle Muscular Dystrophy Panel
Test code: 03304 • 10–21 days turnaround time
The Invitae Limb-Girdle Muscular Dystrophy Panel analyzes genes that are associated with limb-girdle muscular dystrophy (LGMD), a heterogeneous group of conditions characterized by muscle weakness and wasting primarily affecting the limb-girdle musculature.
Primary panel (38 genes)
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Add-ons can be included at no additional charge.
Invitae Comprehensive Myopathy Panel
Invitae Comprehensive Myopathy Panel
Test code: 03361 • 10–21 days turnaround time
The Invitae Comprehensive Myopathy Panel analyzes genes that are associated with inherited myopathies, a heterogeneous group of neuromuscular conditions characterized by weakness due to muscle dysfunction.
Primary panel (72 genes)
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Add-ons can be included at no additional charge.
Invitae Congenital Myopathy Panel
Invitae Congenital Myopathy Panel
Test code: 03362 • 10–21 days turnaround time
The Invitae Congenital Myopathy Panel analyzes genes that are associated with congenital myopathies, a heterogeneous group of neuromuscular conditions with widely variable symptom severity.
Primary panel (36 genes)
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Add-ons can be included at no additional charge.
Invitae Periodic Paralysis Panel
Invitae Periodic Paralysis Panel
Test code: 03373 • 10–21 days turnaround time
The Invitae Periodic Paralysis Panel analyzes genes that are associated with hypokalemic periodic paralysis (HOKPP) and hyperkalemic periodic paralysis (HYPP), conditions characterized by muscle weakness or paralysis with low or high serum potassium. This test does not include analysis of the KCNJ18 gene.
Invitae Myotonia and Paramyotonia Congenita Panel
Invitae Myotonia and Paramyotonia Congenita Panel
Test code: 03375 • 10–21 days turnaround time
The Invitae Myotonia and Paramyotonia Congenita Panel analyzes genes that cause myotonia and paramyotonia congenita. This test covers the most common causative genes for these disorders.
Invitae Rhabdomyolysis and Metabolic Myopathy Panel
Invitae Rhabdomyolysis and Metabolic Myopathy Panel
Test code: 53699 • 10–21 days turnaround time
Invitae Rhabdomyolysis and Metabolic Myopathy Panel analyzes genes that are associated with rhabdomyolysis, metabolic myopathy, mitochondrial disorders, and related hereditary conditions.
Primary panel (129 genes)
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Add-ons can be included at no additional charge.