Clinical and research tests for C1836472 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Congenital Myopathy Panel Genetic Services Laboratory University of Chicago United States	31	43	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Disorders exome Genetic Services Laboratory University of Chicago United States	116	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Disorders Panel Genetic Services Laboratory University of Chicago United States	116	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region
KBTBD13 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	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
Neuromuscular Panel Centogene AG - the Rare Disease Company Germany	325	316	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Nemaline myopathy 6, autosomal dominant, 609273, Autosomal dominant; NEM6 (Childhood-onset nemaline myopathy) (KBTBD13 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
Nemaline myopathy 6, autosomal dominant, 609273, Autosomal dominant; NEM6 (Childhood-onset nemaline myopathy) (KBTBD13 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 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 Congenital Myopathy Panel Invitae United States	58	36	D Deletion/duplication analysis
Nemaline Myopathy Panel PreventionGenetics, part of Exact Sciences United States	10	10	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
Nemaline Myopathy With Cores (NEM6) via the KBTBD13 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
Nemaline myopathy 6 (sequence analysis of KBTBD13 gene) CGC Genetics Unilabs Portugal	1	1	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
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

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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.