Clinical and research tests for 612416 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Factor XI deficiency, autosomal dominant, 612416 (Congenital factor XI deficiency) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Factor XI deficiency, autosomal dominant, 612416 (Congenital factor XI deficiency) (F11 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
SOX10 Institute for Human Genetics University Medical Center Freiburg Germany	3	1	C Sequence analysis of the entire coding region
Carrier Screening - Comprehensive Panel (145 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	185	145	D Deletion/duplication analysis I Microsatellite instability testing (MSI) X Mutation scanning of select exons T Targeted variant analysis
CentoScreen Centogene AG - the Rare Disease Company Germany	316	314	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
F11 - 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
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	327	300	C Sequence analysis of the entire coding region
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
F11 gene analysis Molecular Haemostasis & Thrombosis Synnovis Analytics LLP - Guy's and St. Thomas' NHS Foundation Trust United Kingdom	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Hemophilia C via the F11 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
Factor XI Mutation Analysis (Ashkenazi Jewish) Quest Diagnostics Nichols Institute San Juan Capistrano United States	1	1	T Targeted variant analysis
FACTOR XI DEFICIENCY (HEMOPHILIA C) BioReference Health United States	1	1	T Targeted variant analysis
Clotting factor deficiency panel. 16-gene NGS panel. Genologica Medica Spain	29	16	C Sequence analysis of the entire coding region
Bleeding disorder / coagulopathy panel. NGS panel of 62 genes. Genologica Medica Spain	96	62	C Sequence analysis of the entire coding region
Faktör XI deficency genetic analysis Duzen Laboratories Duzen BBAGUAS Turkey	1	1	C Sequence analysis of the entire coding region
Comprehensive Bleeding Disorder Panel Versiti Diagnostic Laboratories Versiti, Inc United States	80	50	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Horizon 274 Male Natera, Inc. United States	244	254	E Sequence analysis 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.