Clinical and research tests for BMPR2 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
BMPR2 Gene Pulmonary hypertension, primary type NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
BMPR2 Gene Pulmonary venoocclusive disease type 1 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
HHT and Vascular Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	7	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Pulmonary hypertension Panel Health in Code Spain	1	16	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
Cardiovascular Diseases_General Panel Health in Code Spain	1	380	C Sequence analysis of the entire coding region
Pulmonary Hypertension Panel Health in Code Spain	1	12	C Sequence analysis of the entire coding region
Inherited Cardiovascular Diseases and Sudden Death Panel Health in Code Spain	1	213	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
Pulmonary arterial hypertension Health in Code Spain	1	2	C Sequence analysis of the entire coding region
BMPR2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	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	346	160	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Pulmonary hypertension, familial primary, 1, with or without HHT, 178600, Autosomal dominant; PPH1 (Idiopathic and/or familial pulmonary arterial hypertension) (BMPR2 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, fenfluramine or dexfenfluramine-associated, 178600, Autosomal dominant (Idiopathic and/or familial pulmonary arterial hypertension) (BMPR2 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, familial primary, 1, with or without HHT, 178600, Autosomal dominant; PPH1 (Idiopathic and/or familial pulmonary arterial hypertension) (BMPR2 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
Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600, Autosomal dominant (Idiopathic and/or familial pulmonary arterial hypertension) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Pulmonary venoocclusive disease 1, 265450, Autosomal dominant; PVOD1 (Pulmonary venoocclusive disease) (BMPR2 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, familial primary, 1, with or without HHT, 178600, Autosomal dominant; PPH1 (Idiopathic and/or familial pulmonary arterial hypertension) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis

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