Clinical and research tests for C4317320 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Surgical Risk Screen Labcorp Genetics (formerly Invitae) LabCorp United States	24	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region
F5 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Factor V deficiency, 227400, Autosomal recessive (Congenital factor V deficiency) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Factor V deficiency, 227400, Autosomal recessive (Congenital factor V deficiency) (F5 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
Invitae Genetic Health Screen Labcorp Genetics (formerly Invitae) LabCorp United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cardio Screen Labcorp Genetics (formerly Invitae) LabCorp United States	208	81	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Factor V Leiden Gene mutation Molecular Diagnostics Children's Hospital of Wisconsin United States	2	1	T Targeted variant analysis
Hemophilia: Factor II and Factor V gene mutation study Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India	2	2	T Targeted variant analysis
Factor V Deficiency via the F5 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
Invitae Hereditary Thrombophilia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	24	11	D Deletion/duplication 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
F5 gene analysis Molecular Haemostasis & Thrombosis Synnovis Analytics LLP - Guy's and St. Thomas' NHS Foundation Trust United Kingdom	1	1	C Sequence analysis of the entire coding region
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
Thrombophilia Mutation Panel Baylor Genetics United States	11	3	T Targeted variant analysis
Factor V Leiden Mutation Panel Baylor Genetics United States	5	1	S Mutation scanning of the entire coding region
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
Factor V Leiden Mutation Duzen Laboratories Duzen BBAGUAS Turkey	2	1	T Targeted variant analysis
Factor V Cambridge mutation analysis Duzen Laboratories Duzen BBAGUAS Turkey	2	1	T Targeted variant analysis
Factor V leiden mutation analysis Genetiks Genetic Diagnosis Center Genetic Diseases Evaluation Center Turkey	1	1	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.