Clinical and research tests for C1845837 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies Mayo Clinic Laboratories Mayo Clinic United States	39	40	C Sequence analysis of the entire coding region
NGS Panel for Congenital Dyserythropoietic Anemia BloodGenetics Spain	9	12	C Sequence analysis of the entire coding region
Thrombocytopenia Panel - Expanded PreventionGenetics, part of Exact Sciences United States	32	33	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Thrombocytopenia Panel PreventionGenetics, part of Exact Sciences United States	13	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Dyserythropoietic Anemia Panel PreventionGenetics, part of Exact Sciences United States	8	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Diamond-Blackfan Anemia Panel Genetic Services Laboratory University of Chicago United States	15	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Inherited Bone Marrow Failure Panel Genetic Services Laboratory University of Chicago United States	30	59	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Bleeding Disorders Panel PreventionGenetics, part of Exact Sciences United States	78	79	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Thrombocytopenia and Related Hematopoietic Disorders via the GATA1 Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Bone Marrow Failure Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	50	75	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Bone Marrow Failure NGS Panel Fulgent Genetics United States	180	60	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	472	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Platelet Disorder NGS Panel Fulgent Genetics United States	74	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Thrombosis, Platelet Disorder, and Coagulation Deficiency NGS Panel Fulgent Genetics United States	146	82	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neutropenia NGS Panel Fulgent Genetics United States	39	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GATA1-Related X-Linked Cytopenia: gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
Thrombocytopenia Asper Biogene Asper Biogene LLC Estonia	11	13	C Sequence analysis of the entire coding region
Thrombocytopenia Panel Genetic Services Laboratory University of Chicago United States	28	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hemolytic Anemia Panel by next-generation sequencing (NGS) Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	33	34	E Sequence analysis of select exons
Diamond-Blackfan anemia panel by next-generation sequencing (NGS) Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	4	25	C Sequence analysis of the entire coding region T Targeted variant analysis

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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.