Clinical and research tests for 5627 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Whole Pharmacogenomics Scan RPRD Diagnostics, LLC United States	107	69	D Deletion/duplication analysis T Targeted variant analysis
PROS1 Gene Protein S Deficiency, autosomal dominant NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning 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
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	346	160	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Thrombophilia due to protein S deficiency, autosomal dominant, 612336, Autosomal dominant; THPH5 (Hereditary thrombophilia due to congenital protein S deficiency) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Thrombophilia due to protein S deficiency, autosomal dominant, 612336, Autosomal dominant; THPH5 (Hereditary thrombophilia due to congenital protein S deficiency) (PROS1 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 protein S deficiency, autosomal recessive, 614514, Autosomal recessive; THPH6 (Hereditary thrombophilia due to congenital protein S deficiency) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Thrombophilia due to protein S deficiency, autosomal recessive, 614514, Autosomal recessive; THPH6 (Hereditary thrombophilia due to congenital protein S deficiency) (PROS1 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
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
Protein S Deficiency via the PROS1 Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Hereditary Thrombophilia Panel Invitae United States	24	11	D Deletion/duplication analysis
Invitae Protein S Deficiency Test Invitae United States	2	1	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
PROS1 gene analysis Molecular Haemostasis & Thrombosis Synnovis Analytics LLP - Guy's and St. Thomas' NHS Foundation Trust United Kingdom	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PROS1 Institute for Human Genetics University Medical Center Freiburg Germany	2	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.