Clinical and research tests for C2750804 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Connective Tissue Disorders Panel Invitae United States	195	92	D Deletion/duplication analysis
Congenital Diaphragmatic Hernia Panel PreventionGenetics, part of Exact Sciences United States	116	65	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cutis laxa, autosomal recessive, type IC, 613177, Autosomal recessive; ARCL1C (Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies) (LTBP4 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
Cutis laxa, autosomal recessive, type IC, 613177, Autosomal recessive; ARCL1C (Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies) (LTBP4 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
Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States	166	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Skin and Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States	125	69	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cutis Laxa via the LTBP4 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
Ehlers-Danlos Syndromes (EDS) Panel PreventionGenetics, part of Exact Sciences United States	99	65	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dermatological. Full panel Genologica Medica Spain	123	68	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
Cystic lung disease panel. 8-gene NGS panel. Genologica Medica Spain	17	8	C Sequence analysis of the entire coding region
Skin laxa panel. NGS panel of 10 genes. Genologica Medica Spain	20	10	C Sequence analysis of the entire coding region
Connective Tissue Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	112	45	C Sequence analysis of the entire coding region
Cutis Laxa Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	15	8	C Sequence analysis of the entire coding region
Cutis Laxa Asper Biogene Asper Biogene LLC Estonia	14	10	C Sequence analysis of the entire coding region
Cutis laxa: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	12	9	C Sequence analysis of the entire coding region
Ehlers-Danlos Syndrome Asper Biogene Asper Biogene LLC Estonia	69	37	C Sequence analysis of the entire coding region
Autosomal Dominant and Recessive Cutis Laxa , Panel Massive Sequencing (NGS) 12 Genes Reference Laboratory Genetics Spain	15	12	C Sequence analysis of the entire coding region
Comprehensive Pulmonary NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	123	124	C Sequence analysis of the entire coding region
Autosomal Recessive Cutis Laxa Type IC, Sequencing LTBP4 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region

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