Clinical and research tests for C1264040 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
PlateletGenex Functional Defect Panel (31 genes) (2 Day STAT TAT) Machaon Diagnostics United States	26	31	C Sequence analysis of the entire coding region
VWD-Complete Genetic Panel (2 Day STAT TAT) Machaon Diagnostics United States	4	1	C Sequence analysis of the entire coding region
PlateletGenex Thrombocytopenia Panel (26 genes) (2 Day STAT TAT) Machaon Diagnostics United States	22	26	C Sequence analysis of the entire coding region
VWF - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MarrowZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	250	155	C Sequence analysis of the entire coding region
von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554, Autosomal recessive, Autosomal dominant; VWD2 (Von Willebrand disease type 2A) (VWF gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554, Autosomal recessive, Autosomal dominant; VWD2 (Von Willebrand disease type 2A) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
VWD Type 2N Sequence Analysis Versiti Diagnostic Laboratories Versiti, Inc United States	2	1	E Sequence analysis of select exons
von Willebrand Disease Types 1, 2, and 3 via the VWF Gene PreventionGenetics, part of Exact Sciences United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Coagulation Factor Deficiency Panel PreventionGenetics, part of Exact Sciences United States	21	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Clotting factor deficiency panel. 16-gene NGS panel. Genologica Medica Spain	29	16	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
Coagulation Disorder Panel Versiti Diagnostic Laboratories Versiti, Inc United States	25	20	D Deletion/duplication analysis S Mutation scanning of the entire coding region
Comprehensive Thrombotic Microangiopathy NGS Panel Fulgent Genetics United States	58	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Thrombosis Disorder NGS Panel Fulgent Genetics United States	46	18	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
Von Willebrand Disease (VWF Single Gene Test) Fulgent Genetics United States	3	1	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
Bleeding Disorders , Panel Massive Sequencing (NGS) 23 Genes Reference Laboratory Genetics Spain	22	22	C Sequence analysis of the entire coding region

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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.