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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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EIF2AK4 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
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Centogene AG - the Rare Disease Company Germany | 99 | 101 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Pulmonary Arterial Hypertension (PAH) Panel PreventionGenetics, part of Exact Sciences United States | 10 | 11 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 171 | 137 |
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Vascular malformations Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 20 | 19 |
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Vascular malformations NGS panel HNL Genomics Connective Tissue Gene Tests United States | 20 | 19 |
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Vascular malformations Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 20 | 19 |
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Invitae Pulmonary Arterial Hypertension Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 15 | 12 |
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Vascular Malformations Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States | 24 | 28 |
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Pulmonary venoocclusive disease 2 (sequence analysis of EIF2AK4 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
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Congenital structural heart disease panel. NGS panel of 62 genes. Genologica Medica Spain | 113 | 62 |
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Pulmonary arterial hypertension panel. 12-gene NGS panel. Genologica Medica Spain | 19 | 12 |
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EIF2AK4 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 1 | 1 |
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Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates | 13 | 13 |
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Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates | 64 | 66 |
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Pulmonary venoocclusive disease: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 2 | 2 |
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Pulmonary Arterial Hypertension NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 20 | 22 |
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Comprehensive Pulmonary NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 123 | 124 |
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Comprehensive Pulmonary-Vascular Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States | 100 | 86 |
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