Clinical and research tests for C1865616 - 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
HAMP - 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
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	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
CentoMito Comprehensive Panel Centogene AG - the Rare Disease Company Germany	406	414	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNephro Panel Centogene AG - the Rare Disease Company Germany	498	498	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNephro Plus Panel Centogene AG - the Rare Disease Company Germany	499	499	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
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 2B, 613313, Autosomal recessive; HFE2B (Hemochromatosis type 2) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Hemochromatosis, type 2B, 613313, Autosomal recessive; HFE2B (Hemochromatosis type 2) (HAMP 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
Invitae Genetic Health Screen Labcorp Genetics (formerly Invitae) LabCorp United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States	886	547	D Deletion/duplication analysis 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
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
HAMP - juvenile hemochromatosis type 2B Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	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
Juvenile Hereditary Hemochromatosis via the HAMP 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
Invitae Hereditary Hemochromatosis Panel Labcorp Genetics (formerly Invitae) LabCorp United States	11	6	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.