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Neurogenetics

Our extensive neurogenetic portfolio of tests and services spans screening, diagnostic and drug development needs for genetic testing across the healthcare continuum.

Genetic testing is profoundly personal.

Our extensive portfolio of tests and services spans screening, diagnostic and drug development needs for genetic testing across the healthcare continuum. Together, we can leverage the power of genetic advancements to reshape healthcare, drive the development of targeted therapies and expand access to personalized treatments that enhance patient outcomes.

Our broad test menu, expert support, accessible testing services and capabilities are all designed to meet your needs for genetic testing.

Alzheimer's disease and dementias

NumberName
125536APOE Alzheimer's Disease Risk
900169Invitae C9orf72-related Frontotemporal Dementia and Amyotrophic Lateral Sclerosis Repeat Expansion Test
900098Invitae Hereditary Alzheimer's Disease Panel
899828NOTCH3 Invitae Single Gene Diagnostic Test
899839HTRA1 Invitae Single Gene Diagnostic Test


Epilepsy

NumberName
899874Invitae Focused Epilepsy Gene Panel
899850Invitae Epilepsy Panel


Pediatric neurology

NumberName
900599Invitae Comprehensive Deafness Panel
481684Fragile X Syndrome
899885Invitae Charcot-Marie-Tooth Disease Comprehensive Panel
900503Invitae Tuberous Sclerosis Complex Panel
899766MECP2 Invitae Single Gene Diagnostic Test
899711PMP22 Invitae Single Gene Diagnostic Test
510002Reveal® SNP Micorarray - Pediatric
481630Spinal Muscular Atrophy (SMA)
900133Invitae Familial Dysautonomia Test
900144Invitae Familial Hemiplegic Migraine Panel
900152Invitae Hereditary Moyamoya Disease Panel
900225Invitae Oculo-Facio-Cardio-Dental Syndrome Test


General neurology

NumberName
899997Invitae Periodic Paralysis Panel
899929Invitae Malignant Hyperthermia Susceptibility Panel
900557Invitae NF2-related Schwannomatosis Test
900113Invitae Small Fiber Neuropathy Test
900141Invitae Hereditary Prion Disease Test
900151Invitae Hereditary Cerebral Small Vessel Disease Panel


Neuromuscular/movement disorders

NumberName
900169Invitae C9orf72-related Frontotemporal Dementia and Amyotrophic Lateral Sclerosis Repeat Expansion Test
899896Invitae Hereditary Sensory and Autonomic Neuropathy Panel
899951Invitae Limb-Girdle Muscular Dystrophy Panel
482466GeneSeq® PLUS, DMD
484653Huntington Disease
899689LRRK2 Invitae Single Gene Diagnostic Test
484656Myotonic Dystrophy 1 (DMPK) Repeat Expansion
484659Myotonic Dystrophy 2 (CNBP) Repeat Expansion
899700SOD1 Invitae Single Gene Diagnostic Test
899940Invitae Comprehensive Muscular Dystrophy Panel
899973Invitae Hereditary Parkinson Disease and Parkinsonism Panel
899962Invitae Dystonia Comprehensive Panel
900046Invitae Hereditary Amyotrophic Lateral Sclerosis, Frontotemporal Dementia and Alzheimer Disease Panel
900069Invitae Amyotrophic Lateral Sclerosis Panel
900127Invitae Amyotrophic Lateral Sclerosis with C9orf72 Panel
899863Invitae Comprehensive Neuropathies Panel
900121Invitae Hereditary Spastic Paraplegia Comprehensive Panel


Spinocerebellar ataxia

NumberName
484647Ataxia Repeat Expansion Panel
484648Spinocerebellar Ataxia Repeat Expansion Panel
484650Friedreich Ataxia (FXN) Repeat Expansion
484660Spinocerebellar Ataxia 1 (ATXN1) Repeat Expansion
484661Spinocerebellar Ataxia 2 (ATXN2) Repeat Expansion
484662Spinocerebellar Ataxia 3 (ATXN3) Repeat Expansion
484663Spinocerebellar Ataxia 6 (CACNA1A) Repeat Expansion
484664Spinocerebellar Ataxia 7 (ATXN7) Repeat Expansion
484665Spinocerebellar Ataxia 8 (ATXN8OS) Repeat Expansion
484666Spinocerebellar Ataxia 10 (ATXN10) Repeat Expansion
484668Spinocerebellar Ataxia 12 (PPP2R2B) Repeat Expansion
484669Spinocerebellar Ataxia 17 (TBP) Repeat Expansion
484649Dentatorubral-Pallidoluysian Atrophy (ATN1) Repeat Expansion