Clinical and research tests for C1865409 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Spastic paraplegia panel Genologica Medica Spain	100	60	C Sequence analysis of the entire coding region
Neuro-ophthalmology panel. NGS panel of 38 genes. Genologica Medica Spain	75	38	C Sequence analysis of the entire coding region
Mitochondrial genome sequencing Molecular Vision Laboratory United States	526	339	C Sequence analysis of the entire coding region
SETX - Gene sequencing Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands	2	1	C Sequence analysis of the entire coding region
Frontotemporal dementia and/or Amyotrophic Lateral Sclerosis: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	30	30	I Microsatellite instability testing (MSI) C Sequence analysis of the entire coding region
Neuro-Ophthalmic Disorders NGS Panel Fulgent Genetics United States	52	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Early-Onset Ataxia NGS Panel Fulgent Genetics United States	505	132	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Late-Onset Ataxia NGS Panel Fulgent Genetics United States	133	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ataxia NGS Panel Fulgent Genetics United States	533	149	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ataxia with Oculomotor Apraxia Type 1/2 NGS Panel Fulgent Genetics United States	3	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes Reference Laboratory Genetics Spain	60	49	C Sequence analysis of the entire coding region
Amyotrophic Lateral Sclerosis (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States	25	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Amyotrophic Lateral Sclerosis , Panel Massive Sequencing (NGS) 12 Genes Reference Laboratory Genetics Spain	12	12	C Sequence analysis of the entire coding region
AMYOTROPHIC LATERAL SCLEROSIS (ALS) (AUTOSOMAL DOMINANT) Laboratorio de Genetica Clinica SL Spain	14	17	C Sequence analysis of the entire coding region T Targeted variant analysis
Neuromuscular Disorders NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	233	144	C Sequence analysis of the entire coding region
Amyotrophic Lateral Sclerosis Asper Biogene Asper Biogene LLC Estonia	22	22	C Sequence analysis of the entire coding region
Juvenile Amyotrophic Lateral Sclerosis Type 4 , Deletions-Duplications (MLPA) SETX Gene Reference Laboratory Genetics Spain	1	1	D Deletion/duplication analysis
Juvenile Amyotrophic Lateral Sclerosis Type 4 , Sequencing SETX (ALS4) Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Invitae Amyotrophic Lateral Sclerosis Panel Invitae United States	29	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nonprevalent Amyotrophic Lateral Sclerosis Advanced Sequencing Evaluation Athena Diagnostics United States	24	15	C Sequence analysis of the entire coding region

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Results: 21 to 40 of 62

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.