Clinical and research tests for 51776 - Genetic Testing Registry (GTR)

Results: 1 to 20 of 20

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Neuromuscular Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	216	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Limb and Digital Malformations Panel Invitae United States	356	177	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	320	231	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Polydactyly Panel PreventionGenetics, part of Exact Sciences United States	231	139	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Split-foot malformation with mesoaxial polydactyly, 616890, Autosomal recessive (MAP3K20 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
Split-foot malformation with mesoaxial polydactyly, 616890, Autosomal recessive (MAP3K20 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
Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	220	128	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
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
Neuromuscular Disorders Panel CGC Genetics Unilabs Portugal	17	367	C Sequence analysis of the entire coding region
Myopathies, including congenital myopathies (WES based NGS panel of 180 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	180	C Sequence analysis of the entire coding region
Neuromuscular Diseases Panel (Expanded) Mendelics Brazil	1	288	C Sequence analysis of the entire coding region
Skeletal Diseases Panel Mendelics Brazil	1	333	C Sequence analysis of the entire coding region
Centronuclear myopathy 6 with fiber-type disproportion: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
Neuromuscular disorders - different panels Institute of Human Genetics Cologne University Germany	16	474	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Myopathy, centronuclear: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	7	7	C Sequence analysis of the entire coding region
MAP3K20 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Mental retardation - different panels Institute of Human Genetics Cologne University Germany	7	2536	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 1 to 20 of 20

Results: 1 to 20 of 20