Clinical and research tests for C1851316 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
NGS Panel for Hemochromatosis and Hyperferritinemia /Hypoferritinemia Panel BloodGenetics Spain	11	11	C Sequence analysis of the entire coding region
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
Invitae Iron Related Disorders Panel Invitae United States	39	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hemochromatosis, type 5, 615517, Autosomal dominant; HFE5 (FTH1-related iron overload) (FTH1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
WES iron disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	20	46	E Sequence analysis of select exons
FTH1 - hereditary hemochromatosis type 5 (IRE-FTH1) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
panel hemochromatosis (CP, HFE, HFE2, HAMP, TFR2, SLC40A1, BMP6, FTL, IRE-FTH1) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	8	9	C Sequence analysis of the entire coding region
Hereditary Hemochromatosis Panel PreventionGenetics 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
FTH1. Complete sequencing IGENOMIX Spain	1	1	C Sequence analysis of the entire coding region
FTH1. Detection of the mutation p.Ala49Thr by sequencing IGENOMIX Spain	1	1	T Targeted variant analysis
Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India	377	317	C Sequence analysis of the entire coding region
Hemochromatosis, type 5 Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Germany	1	1	C Sequence analysis of the entire coding region
Hemochromatosis type 5 (sequence analysis of FTH1 gene) Unilabs Genetics CGC Genetics Portugal	1	1	C Sequence analysis of the entire coding region
Hemochromatosis: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	7	6	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 Massive Sequencing (NGS) 6 Genes Reference Laboratory Genetics Spain	6	6	C Sequence analysis of the entire coding region
Hemochromatosis Type 5, Sequencing FTH1 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Hemochromatosis NGS and Deletion and Duplication Panel DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	15	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FTH1-associated iron overload Bioarray Spain	1	1	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.