Clinical and research tests for CNTN1 - 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
CNTN1 Gene Compton-North congenital myopathy NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning 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
CNTN1 - 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
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Myopathy, congenital, Compton-North, 612540, Autosomal recessive; MYPCN (Congenital lethal myopathy, Compton-North type) (CNTN1 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
Myopathy, congenital, Compton-North, 612540, Autosomal recessive; MYPCN (Congenital lethal myopathy, Compton-North type) (CNTN1 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 University, School of Medicine 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 Labcorp Genetics (formerly Invitae) LabCorp United States	143	70	D Deletion/duplication analysis
Invitae Congenital Myopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	58	36	D Deletion/duplication analysis
Invitae Comprehensive Neuromuscular Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	353	208	D Deletion/duplication analysis
Congenital Myopathy Panel PreventionGenetics, part of Exact Sciences United States	58	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Panel PreventionGenetics, part of Exact Sciences United States	7	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Compton-North Congenital Myopathy via the CNTN1 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
Neuromuscular Disorders Panel Baylor Genetics United States	1	142	C Sequence analysis of the entire coding region
Neuromuscular diseases panel_v.2.0 CGC Genetics Unilabs Portugal	17	248	C Sequence analysis of the entire coding region
Myopathies panel CGC Genetics Unilabs Portugal	1	181	C Sequence analysis of the entire coding region
Arthrogryposis (WES based NGS panel for 240 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	240	C Sequence analysis of the entire coding region

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