Clinical and research tests for C4225413 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Carrier Screening - Comprehensive Panel (145 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	185	145	D Deletion/duplication analysis I Microsatellite instability testing (MSI) X Mutation scanning of select exons T Targeted variant analysis
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
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
CHRNE - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Myasthenic Syndrome Panel PreventionGenetics, part of Exact Sciences United States	58	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Myasthenic syndrome, congenital, 4A, slow-channel, 605809, Autosomal recessive, Autosomal dominant; CMS4A (Congenital myasthenic syndrome) (CHRNE 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
Myasthenic syndrome, congenital, 4A, slow-channel, 605809, Autosomal recessive, Autosomal dominant; CMS4A (Congenital myasthenic syndrome) (CHRNE 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
Invitae Broad Carrier Screen without X-linked Disorders Invitae United States	195	98	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Broad Carrier Screen Invitae United States	224	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis 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 Myasthenic Syndrome Panel Invitae United States	38	21	D Deletion/duplication analysis
Invitae Comprehensive Neuromuscular Disorders Panel Invitae United States	353	208	D Deletion/duplication analysis
Arthrogryposis panel. NGS panel of 69 genes. Genologica Medica Spain	135	69	C Sequence analysis of the entire coding region
Complete panel of pulmonology. NGS panel of 66 genes. Genologica Medica Spain	115	66	C Sequence analysis of the entire coding region
Congenital myasthenic syndromes panel. 18-gene NGS panel. Genologica Medica Spain	38	18	C Sequence analysis of the entire coding region
Central hypoventilation and apnea panel. NGS panel of 15 genes. Genologica Medica Spain	37	15	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

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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.