BMPR2 Gene Pulmonary hypertension, primary type NGS Genetic DNA Test DNA Labs India
India | 1 | 1 | - S Mutation scanning of the entire coding region
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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
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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
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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
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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
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CentoCardio Panel Centogene AG - the Rare Disease Company
Germany | 289 | 275 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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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
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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
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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
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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
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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
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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
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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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Pulmonary venoocclusive disease 1, 265450, Autosomal dominant; PVOD1 (Pulmonary venoocclusive disease) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Pulmonary hypertension, familial primary, 1, with or without HHT, 178600, Autosomal dominant; PPH1 (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 hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600, Autosomal dominant (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) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
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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
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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
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Invitae Cardio Screen Labcorp Genetics (formerly Invitae) LabCorp
United States | 208 | 81 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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