Clinical and research tests for C4551861 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hereditary Hemorrhagic Telangiectasia Impact Genetics Dynacare/LabCorp Canada	5	3	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Hereditary hemorrhagic telangiectasia Panel Health in Code Spain	1	9	C Sequence analysis of the entire coding region
Hereditary Haemorrhagic Telangiectasia Panel Health in Code Spain	1	6	C Sequence analysis of the entire coding region
ENG - NGS including CNV analysis Centogene US, LLC - The Rare Disease Company United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Blood Coagulation Panel Centogene US, LLC - The Rare Disease Company United States	110	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoCardio Panel Centogene US, LLC - The Rare Disease Company United States	289	275	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Pulmonary Panel Centogene US, LLC - The Rare Disease Company United States	99	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
ENG - 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
Blood Coagulation Panel Centogene AG - the Rare Disease Company Germany	110	112	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 United States	342	156	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Telangiectasia, hereditary hemorrhagic, type 1, 187300, Autosomal dominant; HHT (Rendu - Osler - Weber Syndrome) (MLPA) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	D Deletion/duplication analysis
Telangiectasia, hereditary hemorrhagic, type 1, 187300, Autosomal dominant; HHT (Rendu - Osler - Weber Syndrome) (ENG gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Pulmonary Arterial Hypertension (PAH) Panel PreventionGenetics United States	10	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
PulmZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	163	128	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

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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.