Clinical and research tests for 107300 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SERPINC1 Gene Antithrombin III deficiency NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Antithrombin Deficiency, SERPINC1 Gene, Full Gene Next-Generation Sequencing Mayo Clinic Laboratories Mayo Clinic United States	1	1	C Sequence analysis of the entire coding region
Genetic Study of Hereditary Thrombophilia (11 genes, 15 variants) HeartGenetics, Genetics and Biotechnology, SA Portugal	1	11	E Sequence analysis of select exons T Targeted variant analysis
Invitae Surgical Risk Screen Invitae United States	24	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SERPINC1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Blood Coagulation Panel Centogene AG - the Rare Disease Company Germany	110	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics, part of Exact Sciences United States	345	159	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Thrombophilia due to antithrombin III deficiency, 613118, Autosomal recessive, Autosomal dominant; AT3D (Hereditary thrombophilia due to congenital antithrombin deficiency) (SERPINC1 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
Thrombophilia due to antithrombin III deficiency, 613118, Autosomal recessive, Autosomal dominant; AT3D (Hereditary thrombophilia due to congenital antithrombin deficiency) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Thrombosis Panel Versiti Diagnostic Laboratories Versiti, Inc United States	1	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Genetic Health Screen Invitae United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cardio Screen Invitae United States	208	81	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hereditary Thrombophilia Panel Invitae United States	24	11	D Deletion/duplication analysis
Invitae Antithrombin III Deficiency Test Invitae United States	1	1	D Deletion/duplication analysis
Antithrombin Deficiency via the SERPINC1 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
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
Antithrombin Mutation Analysis Molecular Haemostasis & Thrombosis Viapath - Guy's and St. Thomas' NHS Foundation Trust United Kingdom	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hematology Comprehensive Panel CGC Genetics Unilabs Portugal	1	291	C Sequence analysis of the entire coding region
Bleeding Disorders Panel CGC Genetics Unilabs Portugal	1	121	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.