Clinical and research tests for 5054 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SERPINE1 Gene Plasminogen activator inhibitor type 1 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
SERPINE1 - 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
Plasminogen activator inhibitor-1 deficiency, 613329, Autosomal recessive, Autosomal dominant (Congenital plasminogen activator inhibitor type 1 deficiency) (SERPINE1 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
Transcription of plasminogen activator inhibitor, modulator of (Congenital plasminogen activator inhibitor type 1 deficiency) (SERPINE1 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
Fibrinolytic Disorder Panel Versiti Diagnostic Laboratories Versiti, Inc United States	3	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PAI1 4G IBC Instituto de Bioquimica Clinica SRL Argentina	3	1	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
Plasminogen Activator Inhibitor-1 (PAI-1) 4G/5G Quest Diagnostics Nichols Institute San Juan Capistrano United States	1	1	T Targeted variant analysis
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
Plasminogen activator inhibitor-1 deficiency (sequence analysis of SERPINE1 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Thrombophilia markers (SERPINE1/PAI1, alleles -675 4G/5G and -844A/G) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Plasminogen activator inhibitor-1 deficiency (deletion/duplication analysis on SERPINE1 gene) CGC Genetics Unilabs Portugal	1	1	D Deletion/duplication analysis
Thrombophilia CGC Genetics Unilabs Portugal	1	16	C Sequence analysis of the entire coding region
Plasminogen Activator Inhibitor 1 Polymorphism Duzen Laboratories Duzen BBAGUAS Turkey	1	1	T Targeted variant analysis
PAI-1 DNA analysis - 4G / 5G Genetiks Genetic Diagnosis Center Genetic Diseases Evaluation Center Turkey	1	1	C Sequence analysis of the entire coding region
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons 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.