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

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Results: 1 to 19 of 19

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 Labcorp Genetics (formerly Invitae) LabCorp 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 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
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
Bone diseases panel_v.2.0 CGC Genetics Unilabs Portugal	1	662	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
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

Results: 1 to 19 of 19

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