Clinical and research tests for C3280526 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 18 of 18

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Distal Arthrogryposis Panel Genetic Services Laboratory University of Chicago United States	12	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MYBPC1 - 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
Arthrogryposis, distal, type 1B, 614335; DA1B (Digitotalar dysmorphism) (MYBPC1 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
Arthrogryposis, distal, type 1B, 614335; DA1B (Digitotalar dysmorphism) (MYBPC1 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
Distal Arthrogryposis 1B via the MYBPC1 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
Comprehensive Neuromuscular Panel PreventionGenetics, part of Exact Sciences United States	376	266	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Distal Arthrogryposis Panel PreventionGenetics, part of Exact Sciences United States	14	12	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	58	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Arthrogryposis panel. NGS panel of 69 genes. Genologica Medica Spain	135	69	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
Arthrogryposis Panel GeneDx United States	156	91	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Arthrogryposis, distal: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	13	9	C Sequence analysis of the entire coding region
Arthrogryposis NGS Panel Fulgent Genetics United States	175	60	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Contractures NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	81	57	C Sequence analysis of the entire coding region
ARTHROGRYPOSIS, DISTAL, TYPE 1 Laboratorio de Genetica Clinica SL Spain	2	2	C Sequence analysis of the entire coding region
MYBPC1 Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Distal Arthrogryposis Syndromes NGS Panel Fulgent Genetics United States	10	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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