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

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Results: 21 to 40 of 71

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MarrowZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	244	149	C Sequence analysis of the entire coding region
Inherited Bone Marrow Failure Panel PreventionGenetics United States	266	186	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Thrombocytopenia-absent radius syndrome, 274000, Autosomal recessive; TAR (Thrombocytopenia-absent radius syndrome) (440) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	D Deletion/duplication analysis
Inherited Thrombocytopenia Panel Versiti Diagnostic Laboratories Versiti, Inc United States	40	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
qChip 180 Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
Thrombocytopenia and absent radius syndrome Comprehensive test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Thrombocytopenia and absent radius syndrome Sequencing test HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Thrombocytopenia and absent radius syndrome Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Limb Malformation Panel PreventionGenetics United States	70	72	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Thrombocytopenia Comprehensive Panel HNL Genomics Connective Tissue Gene Tests United States	25	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Thrombocytopenia Deletion / Duplication Panel HNL Genomics Connective Tissue Gene Tests United States	25	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Thrombocytopenia NGS Panel HNL Genomics Connective Tissue Gene Tests United States	25	28	C Sequence analysis of the entire coding region T Targeted variant analysis
Thrombocytopenia Absent Radius (TAR) Syndrome via the RBM8A Gene - Sequencing and 1q21.1 Deletion PreventionGenetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Thrombocytopenia Absent Radius (TAR) Syndrome via the RBM8A 1q21.1 Deletion PreventionGenetics United States	1	1	D Deletion/duplication analysis
Thrombocytopenia Absent Radius (TAR) Syndrome via the RBM8A Gene PreventionGenetics United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Thrombocytopenia Panel - Expanded PreventionGenetics United States	30	32	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Bone Marrow Failure Syndromes Panel Invitae United States	138	85	D Deletion/duplication analysis
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
Limb malformation panel. NGS panel of 45 genes. Genologica Medica Spain	77	45	C Sequence analysis of the entire coding region
Bone marrow failure syndrome panel. NGS panel of 122 genes. Genologica Medica Spain	194	122	C Sequence analysis of the entire coding region

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Results: 21 to 40 of 71

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.