Clinical and research tests for C4552070 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 72

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
Invitae Pulmonary Arterial Hypertension Panel Invitae United States	15	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Pulmonary Arterial Hypertension (PAH) via the BMPR2 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
BMPR2 gene sequencing Health in Code Spain	2	1	C Sequence analysis of the entire coding region
BMPR2 MLPA Institute for Human Genetics University Medical Center Freiburg Germany	2	1	D Deletion/duplication analysis
Congenital structural heart disease panel. NGS panel of 62 genes. Genologica Medica Spain	113	62	C Sequence analysis of the entire coding region
Pulmonary arterial hypertension panel. 12-gene NGS panel. Genologica Medica Spain	19	12	C Sequence analysis of the entire coding region
BMPR2 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	2	1	D Deletion/duplication analysis
Pulmonary arterial hypertension Institute of Human Genetics Cologne University Germany	2	24	C Sequence analysis of the entire coding region
Pulmonary Hypertension Panel Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	13	13	C Sequence analysis of the entire coding region
Comprehensive lung panel Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	64	66	C Sequence analysis of the entire coding region
BMPR2 Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Structural Heart Disease NGS Panel Fulgent Genetics United States	73	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Adams-Oliver Syndrome NGS Panel Fulgent Genetics United States	55	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Oxidative Phosphorylation Disorders NGS Panel Fulgent Genetics United States	416	235	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypomyelinating Leukodystrophy NGS Panel Fulgent Genetics United States	225	62	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Heritable Pulmonary Arterial Hypertension, Panel Massive Sequencing (NGS) 5 Genes Reference Laboratory Genetics Spain	5	5	C Sequence analysis of the entire coding region
Heritable Pulmonary Arterial Hypertension, Deletions-Duplications (MLPA) BMPR2 Gene Reference Laboratory Genetics Spain	1	1	D Deletion/duplication analysis

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Results: 21 to 40 of 72

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.