Clinical and research tests for C0175703 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Bone marrow failure syndrome panel. NGS panel of 122 genes. Genologica Medica Spain	194	122	C Sequence analysis of the entire coding region
Thrombocytopenia panel. 34-gene NGS panel. Genologica Medica Spain	53	34	C Sequence analysis of the entire coding region
Bleeding disorder / coagulopathy panel. NGS panel of 62 genes. Genologica Medica Spain	96	62	C Sequence analysis of the entire coding region
RBM8A - Genetic Analysis Versiti Diagnostic Laboratories Versiti, Inc United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Thrombocytopenia Genetic Analysis MNG Laboratories (Medical Neurogenetics, LLC.) United States	20	26	C Sequence analysis of the entire coding region
Comprehensive Platelet Disorder Panel Versiti Diagnostic Laboratories Versiti, Inc United States	60	63	D Deletion/duplication analysis S Mutation scanning of the entire coding region
Limb Abnormalities and Reduction Defects Panel GeneDx United States	24	76	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Bone Marrow Failure Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	95	62	C Sequence analysis of the entire coding region
RBM8A 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
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
TAR Syndrome (RBM8A Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Thrombocytopenia with absent radius (TAR) syndrome: 1q21.1 Deletion/Duplication Analysis CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	D Deletion/duplication analysis
Thrombocytopenia Absent Radius Syndrome: gene deletion/duplication CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	D Deletion/duplication analysis
Thrombocytopenia Absent Radius Syndrome: gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes Reference Laboratory Genetics Spain	63	58	C Sequence analysis of the entire coding region
TAR SYNDROME (THROMBOCYTOPENIA - ABSENT RADIUS) Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
TAR Syndrome , Sequencing RBM8A Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region

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Results: 41 to 60 of 66

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.