Clinical and research tests for 2495 - 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 Labcorp Genetics (formerly Invitae) LabCorp 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 Intergen Genetics and Rare Diseases Diagnosis Center 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, 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 Labcorp Genetics (formerly Invitae) LabCorp United States	11	6	D Deletion/duplication analysis
Hemochromatosis (WES based NGS panel of 8 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	8	C Sequence analysis of the entire coding region
Hemochromatosis type 5 (sequence analysis of FTH1 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES) Laboratorio de Genetica Clinica SL Spain	1	1372	E Sequence analysis of select exons
HEMOCHROMATOSIS HYPERFERRITINEMIA SYNDROME PANEL Laboratorio de Genetica Clinica SL Spain	1	8	E Sequence analysis of select exons
Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India	376	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
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
Hemochromatosis: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	7	6	C Sequence analysis of the entire coding region
Hereditary hemochromatosis (HFE2, HAMP, TFR2, SLC40A1, FTH1) Center for Human Genetics Cliniques Universitaires Saint Luc Belgium	1	5	S Mutation scanning 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
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.