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
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
SETX - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoVision Panel Centogene AG - the Rare Disease Company Germany	417	413	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Amyotrophic Lateral Sclerosis (ALS) / Dementia Panel Centogene AG - the Rare Disease Company Germany	64	66	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia / Spastic Paraplegia Comprehensive Panel Centogene AG - the Rare Disease Company Germany	451	452	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia / Spastic Paraplegia Panel Centogene AG - the Rare Disease Company Germany	442	443	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Hereditary Amyotrophic Lateral Sclerosis, Frontotemporal Dementia and Alzheimer Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	72	33	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Episodic Ataxia Panel PreventionGenetics, part of Exact Sciences United States	61	36	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) Panel PreventionGenetics, part of Exact Sciences United States	45	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Amyotrophic Lateral Sclerosis (ALS) Panel PreventionGenetics, part of Exact Sciences United States	32	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Amyotrophic lateral sclerosis 4, juvenile, 602433, Autosomal dominant (Amyotrophic lateral sclerosis type 4) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Amyotrophic lateral sclerosis 4, juvenile, 602433, Autosomal dominant (Amyotrophic lateral sclerosis type 4) (SETX gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	480	254	C Sequence analysis of the entire coding region
Invitae Mendelian Disorders with Psychiatric Symptoms Panel Labcorp Genetics (formerly Invitae) LabCorp United States	247	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Autosomal Recessive Spinocerebellar Ataxia and Amyotrophic Lateral Sclerosis Type 4 via the SETX Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
SETX Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Hereditary ataxias. NGS panel of 139 genes. Genologica Medica Spain	220	139	C Sequence analysis of the entire coding region
Ataxia panel. NGS panel of 157 genes. Genologica Medica Spain	247	156	C Sequence analysis of the entire coding region
Amyotrophic lateral sclerosis panel. 32-gene NGS panel. Genologica Medica Spain	66	32	C Sequence analysis of the entire coding region

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