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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
620017C9orf72 Genetic Testing (Repeat Expansion)
630557Early Onset Alzheimer's NGS Diagnostic Test
630000GeneSeq® Neuro: CARASIL/CADASIL Panel


Epilepsy

NumberName
630550Clinical Epilepsy NGS Panel
630268Comprehensive Epilepsy NGS Panel
511236SCN1A Sequencing, Full Gene


General neurology

NumberName
630730GeneSeq® Neuro: Hypokalemic and Hyperkalemic Periodic Paralysis Panel
630700GeneSeq® Neuro: Malignant Hyperthermia Susceptibility Panel
630906NF2 Single Gene Analysis


Neuromuscular/movement disorders

NumberName
620017C9orf72 Genetic Testing (Repeat Expansion)
630729GeneSeq® Neuro: Malignant Hyperthermia Susceptibility Panel
630762GeneSeq® Neuro: Limb-Girdle and Emery-Dreifuss Muscular Dystrophies
482466GeneSeq® PLUS, DMD
620016Huntington Disease (HTT) Genetic Testing (Repeat Expansion)
630654LRRK2 Single Gene Analysis
620084Myotonic Dystrophy 1 (DMPK) Genetic Testing (Repeat Expansion)
620087Myotonic Dystrophy 2 (ZNF9/CNBP) Genetic Testing (Repeat Expansion)
630691SOD1 Single Gene Analysis


Pediatric neurology

NumberName
630628Comprehensive Hearing Loss NGS Panel + mtDNA
481701Fragile X Syndrome, Diagnostic
630732GeneSeq® Neuro: Charcot-Marie-Tooth Disease Panel
630019GeneSeq® Neuro: Tuberous Sclerosis Panel
630792MECP2 Single Gene Analysis
630643PMP22 Full Gene Sequencing (no CNV)
620081PMP22 MLPA Deletion/Duplication Analysis
510002SNP Microarray−Pediatric (Reveal®)
481630Spinal Muscular Atrophy (SMA)


Spinocerebellar ataxia

NumberName
620167Comprehensive Spinocerebellar Ataxia Repeat Expansion Panel
620077Friedreich Ataxia Genetic Testing (Trinucleotide Repeat Expansion)
620114SCA1 (ATXN1) Genetic Testing (Repeat Expansion)
620140SCA10 (ATXN10) Genetic Testing (Repeat Expansion)
620144SCA12 (PPP2R2B) Genetic Testing (Repeat Expansion)
620149SCA17 (TBP) Genetic Testing (Repeat Expansion)
620118SCA2 (ATXN2) Genetic Testing (Repeat Expansion)
620123SCA3 (ATXN3) Genetic Testing (Repeat Expansion)
620154SCA36 (NOP56) Genetic Testing (Repeat Expansion)
620127SCA6 (CACNA1A) Genetic Testing (Repeat Expansion)
620131SCA7 (ATXN7) Genetic Testing (Repeat Expansion)
620135SCA8 (ATXN8) Genetic Testing (Repeat Expansion)