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Results: 1 to 20 of 106

Tests names and labsConditionsGenes, analytes, and microbesMethods

NGS Panel for Hemochromatosis and Hyperferritinemia /Hypoferritinemia Panel

BloodGenetics
Spain
1111
  • C Sequence analysis of the entire coding region

Hyperferritinemia Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
1515
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Iron Related Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
3927
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Genetic Health Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
409164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

WES iron disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
2046
  • 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
89
  • C Sequence analysis of the entire coding region

Next Generation Sequencing for Jaundice Associated Genes Variation Test

National Taiwan University Hospital A1 Center National Taiwan University Hospital
Taiwan
473
  • C Sequence analysis of the entire coding region

Hereditary Hemochromatosis Panel

PreventionGenetics, part of Exact Sciences
United States
77
  • 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
116
  • D Deletion/duplication analysis

Metabolic Diseases Panel

CGC Genetics Unilabs
Portugal
1837
  • C Sequence analysis of the entire coding region

Movement diseases (WES based NGS panel of 931 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
10930
  • C Sequence analysis of the entire coding region

Dilated cardiomyopathy (WES based NGS panel of 81 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
181
  • C Sequence analysis of the entire coding region

Hemochromatosis (WES based NGS panel of 8 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
18
  • C Sequence analysis of the entire coding region

Haematological diseases panel _v.2.0

CGC Genetics Unilabs
Portugal
1344
  • C Sequence analysis of the entire coding region

Hemochromatosis ( deletions/duplications in HFE, TFR2, HJV, HAMP and SLC40A1 genes)

CGC Genetics Unilabs
Portugal
15
  • D Deletion/duplication analysis

Targeted Variant Analysis

Integrated Genetics Westborough LabCorp
United States
287578
  • T Targeted variant analysis

Targeted Variant, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292746
  • T Targeted variant analysis

GeneSeq PLUS

Integrated Genetics Westborough LabCorp
United States
287578
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 106

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.