Clinical and research tests for C0220662 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Distal Arthrogryposis Panel Genetic Services Laboratory University of Chicago United States	12	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TPM2 - 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
Arthrogryposis multiplex congenita, distal, type 1, 108120, Autosomal dominant; DA1A (Digitotalar dysmorphism) (TPM2 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
Arthrogryposis multiplex congenita, distal, type 1, 108120, Autosomal dominant; DA1A (Digitotalar dysmorphism) (TPM2 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
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	480	254	C Sequence analysis of the entire coding region
Comprehensive Neuromuscular Panel PreventionGenetics, part of Exact Sciences United States	183	142	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Myopathy Panel Invitae United States	143	70	D Deletion/duplication analysis
Invitae Congenital Myopathy Panel Invitae United States	58	36	D Deletion/duplication analysis
Invitae Comprehensive Neuromuscular Disorders Panel Invitae United States	353	208	D Deletion/duplication analysis
Distal Arthrogryposis Panel PreventionGenetics, part of Exact Sciences United States	13	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Myopathy Panel PreventionGenetics, part of Exact Sciences United States	57	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Tropomyosin 2-Related Disorders via the TPM2 Gene PreventionGenetics, part of Exact Sciences United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Arthrogryposis panel. NGS panel of 69 genes. Genologica Medica Spain	135	69	C Sequence analysis of the entire coding region
Nemaline myopathy panel. NGS panel of 11 genes. Genologica Medica Spain	15	11	C Sequence analysis of the entire coding region
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain	373	169	C Sequence analysis of the entire coding region
Prenatal Akinesia Arthrogryposis Panel GeneDx United States	6	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Arthrogryposis Panel GeneDx United States	156	91	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Myopathy Panel, Congenital CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	33	17	C Sequence analysis of the entire coding region
Neuromuscular Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	138	62	C Sequence analysis of the entire coding region
Arthrogryposis, distal: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	13	9	C Sequence analysis of the entire coding region

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