Clinical and research tests for C3711381 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Invitae Hereditary Parkinson Disease and Parkinsonism Panel Invitae United States	44	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Dementia, Plus APOE Panel PreventionGenetics, part of Exact Sciences United States	27	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Leukoencephalopathy, diffuse hereditary, with spheroids, 221820, Autosomal dominant (Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia) (CSF1R gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Leukoencephalopathy, diffuse hereditary, with spheroids, 221820, Autosomal dominant (Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia) (CSF1R 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
Leukodystrophy and Leukoencephalopathy, Adult Onset Panel PreventionGenetics, part of Exact Sciences United States	46	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Parkinson Disease and Parkinsonism Panel PreventionGenetics, part of Exact Sciences United States	68	70	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Diffuse Leukoencephalopathy with Spheroids via the CSF1R Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Leukodystrophy and Leukoencephalopathy Panel PreventionGenetics, part of Exact Sciences United States	202	212	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dystonia Exome Genetic Services Laboratory University of Chicago United States	93	170	C Sequence analysis of the entire coding region
Leukodystrophy and leukoencephalopathy panel. NGS panel of 74 genes. Genologica Medica Spain	96	74	C Sequence analysis of the entire coding region
Complete epilepsy panel. NGS panel of 283 genes. Genologica Medica Spain	409	283	C Sequence analysis of the entire coding region
Dementia panel. NGS panel of 21 genes. Genologica Medica Spain	44	21	C Sequence analysis of the entire coding region
HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROIDS AND PIGMENTED GLIA Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes Reference Laboratory Genetics Spain	60	56	C Sequence analysis of the entire coding region
Leukodystrophy and Leukoencephalopathy Asper Biogene Asper Biogene LLC Estonia	47	39	C Sequence analysis of the entire coding region
Diffuse Leukoencephalopathy with Spheroids, Sequencing CSF1R Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Frontotemporal Dementia Asper Biogene Asper Biogene LLC Estonia	29	20	C Sequence analysis of the entire coding region
NGS panel - dementia/ALS Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	42	54	D Deletion/duplication analysis S Mutation scanning of the entire coding region T Targeted variant analysis

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