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
|
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 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
|
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
|
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 University, School of Medicine United States | 162 | 129 | - 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
|