Clinical and research tests for C1853733 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hyperferritinemia Panel Molecular Genetics Laboratory London Health Sciences Centre Canada	15	15	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
CentoMetabolic MOx Centogene AG - the Rare Disease Company Germany	195	221	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region
SLC40A1 - 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
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Iron Related Disorders Panel Invitae United States	39	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hemochromatosis, type 4, 606069, Autosomal dominant; HFE4 (Hemochromatosis type 4) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Invitae Genetic Health Screen Invitae United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary Hemochromatosis via the SLC40A1 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
Hereditary Hemochromatosis Panel PreventionGenetics, part of Exact Sciences United States	7	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Hereditary Hemochromatosis Panel Invitae United States	11	6	D Deletion/duplication analysis
Hemochromatosis, type 4 Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Metabolism NGS Panel Fulgent Genetics United States	602	355	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hemochromatosis Type 4 (SLC40A1 Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hemochromatosis NGS Panel Fulgent Genetics United States	12	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary Hemochromatosis Panel Blueprint Genetics Finland	7	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SLC40A1 Gene Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SLC40A1 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Cardiovascular NGS Panel Fulgent Genetics United States	671	250	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SLC40A1-Related Hereditary Hemochromatosis (Ferroportin disease) MVZ Dr. Eberhard & Partner Dortmund Germany	1	1	D Deletion/duplication analysis 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.