Clinical and research tests for C4517377 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
NGS Panel for Neurodegeneration with Brain Iron Accumulation Disorders (NBIA) BloodGenetics Spain	39	33	C Sequence analysis of the entire coding region
COASY - 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
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Invitae Neurodegeneration with Brain Iron Accumulation Panel Invitae United States	41	20	D Deletion/duplication analysis
Invitae Nuclear Mitochondrial Disorders Panel Invitae United States	394	319	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States	351	249	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States	638	419	D Deletion/duplication analysis
Invitae Brain Malformations Panel Invitae United States	247	161	D Deletion/duplication analysis
Neurodegeneration with brain iron accumulation 6, 615643, Autosomal recessive; NBIA6 (COASY protein-associated neurodegeneration) (COASY 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
Neurodegeneration with brain iron accumulation 6, 615643, Autosomal recessive; NBIA6 (COASY protein-associated neurodegeneration) (COASY 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
Invitae Mendelian Disorders with Psychiatric Symptoms Panel Invitae United States	247	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region
COASY Protein-Associated Neurodegeneration via the COASY 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
Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Panel PreventionGenetics, part of Exact Sciences United States	18	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Neuromuscular Disorders Panel CGC Genetics Unilabs Portugal	17	367	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
Spastic paraplegia panel Genologica Medica Spain	100	60	C Sequence analysis of the entire coding region
Neurodegeneration with Brain Iron Accumulation Disorders: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	9	8	C Sequence analysis of the entire coding region
Neurodegeneration with Brain Iron Accumulation (NBIA) , Panel Massive Sequencing (NGS) 10 Genes Reference Laboratory Genetics Spain	10	10	C Sequence analysis of the entire coding region
Neurodegeneration with Brain Iron Accumulation Asper Biogene Asper Biogene LLC Estonia	10	10	C Sequence analysis of the entire coding region

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