Clinical and research tests for 134830 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
FGB Gene Afibrinogenemia, congenital NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
PlateletGenex Functional Defect Panel (31 genes) (2 Day STAT TAT) Machaon Diagnostics United States	26	31	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
FGB - 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
CentoImmuno Panel Centogene AG - the Rare Disease Company Germany	323	329	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
Dysfibrinogenemia Genetic Panel (2 Day STAT TAT) Machaon Diagnostics United States	2	3	C Sequence analysis of the entire coding region
Hypofibrinogenemia, congenital, 202400, Autosomal recessive (Familial hypodysfibrinogenemia) (FGB gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Hypofibrinogenemia, congenital, 202400, Autosomal recessive (Familial hypodysfibrinogenemia) (FGB 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
Dysfibrinogenemia, congenital, 616004 (Familial dysfibrinogenemia) (FGB 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
Dysfibrinogenemia, congenital, 616004 (Familial dysfibrinogenemia) (FGB gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Afibrinogenemia, congenital, 202400, Autosomal recessive (Familial afibrinogenemia) (FGB 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
Afibrinogenemia, congenital, 202400, Autosomal recessive (Familial afibrinogenemia) (FGB gene) (Sequence Analysis-All Coding Exons) (Prenatal) 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
Thrombosis Panel Versiti Diagnostic Laboratories Versiti, Inc United States	1	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Fibrinogen Deficiency via the FGB 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
Congenital Fibrinogen Deficiency Panel PreventionGenetics, part of Exact Sciences United States	1	3	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

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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.