Clinical and research tests for C3809192 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CAV1 - 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
Pulmonary hypertension, primary, 3, 615343, Autosomal dominant; PPH3 (Idiopathic and/or familial pulmonary arterial hypertension) (CAV1 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
Pulmonary hypertension, primary, 3, 615343, Autosomal dominant; PPH3 (Idiopathic and/or familial pulmonary arterial hypertension) (CAV1 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
Lipodystrophy Panel PreventionGenetics, part of Exact Sciences United States	57	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Familial Partial Lipodystrophy (FPLD) Panel PreventionGenetics, part of Exact Sciences United States	29	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Pulmonary Arterial Hypertension (PAH) Panel PreventionGenetics, part of Exact Sciences United States	10	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Genetic Health Screen Labcorp Genetics (formerly Invitae) LabCorp United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cardio Screen Labcorp Genetics (formerly Invitae) LabCorp United States	208	81	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PulmZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	171	137	C Sequence analysis of the entire coding region
Vascular malformations Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	20	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Vascular malformations NGS panel HNL Genomics Connective Tissue Gene Tests United States	20	19	C Sequence analysis of the entire coding region T Targeted variant analysis
Pulmonary hypertension Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	7	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Pulmonary hypertension Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	7	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Vascular malformations Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	20	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Pulmonary hypertension NGS panel HNL Genomics Connective Tissue Gene Tests United States	7	9	C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Generalized Lipodystrophy (CGL) Panel PreventionGenetics, part of Exact Sciences United States	33	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Pulmonary Arterial Hypertension Panel Labcorp Genetics (formerly Invitae) LabCorp United States	15	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dyslipidemia and early atherosclerosis panel. 84-gene NGS panel. Genologica Medica Spain	133	84	C Sequence analysis of the entire coding region
Congenital and familial lipodystrophy panel. NGS panel of 11 genes. Genologica Medica Spain	29	11	C Sequence analysis of the entire coding region
Pulmonary arterial hypertension panel. 12-gene NGS panel. Genologica Medica Spain	19	12	C Sequence analysis of the entire coding region

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