Clinical and research tests for C3809710 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
GDF2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Pulmonary Panel Centogene AG - the Rare Disease Company Germany	99	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoCardio Panel Centogene AG - the Rare Disease Company Germany	289	275	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics, part of Exact Sciences United States	345	159	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Hemorrhagic telangiectasia NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	5	C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Hemorrhagic telangiectasia Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary Hemorrhagic telangiectasia Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	3	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Telangiectasia, hereditary hemorrhagic, type 5, 615506, Autosomal dominant; HHT5 (Hereditary hemorrhagic telangiectasia) (GDF2 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 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 Invitae United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cardio Screen Invitae 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 Hospital United States	163	128	C Sequence analysis of the entire coding region
HHTNext® Ambry Genetics United States	10	6	D Deletion/duplication analysis 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
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
Hereditary Hemorrhagic telangiectasia NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	5	C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Hemorrhagic telangiectasia Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary Hemorrhagic telangiectasia Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	3	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Pulmonary Arterial Hypertension Panel Invitae United States	15	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.