Clinical and research tests for 612304 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Thrombophilia due to protein C deficiency, autosomal recessive, 612304, Autosomal recessive; THPH4 (Hereditary thrombophilia due to congenital protein C deficiency) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Thrombophilia due to protein C deficiency, autosomal recessive, 612304, Autosomal recessive; THPH4 (Hereditary thrombophilia due to congenital protein C deficiency) (PROC 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
TRIO Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
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
PROC - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	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	346	160	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Invitae Hereditary Thrombophilia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	24	11	D Deletion/duplication analysis
Invitae Protein C Deficiency Test Labcorp Genetics (formerly Invitae) LabCorp 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
PROC 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
Protein C Deficiency via the PROC 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
PC Deletion/Duplication Analysis Baylor Genetics United States	3	1	D Deletion/duplication analysis
PC Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PC Sequence Analysis Baylor Genetics United States	3	1	C Sequence analysis of the entire coding region T Targeted variant analysis
PC Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	3	1	T Targeted variant analysis
ALDOB, FBP1,GYS2 & PC Sequence Analysis Baylor Genetics United States	6	4	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.