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Results: 1 to 20 of 95

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hemochromatosis

Genetics Laboratory Shodair Children's Hospital
United States
11
  • T Targeted variant analysis

Diagnostic génotypique direct au locus HFE (hémochromatose héréditaire)

Laboratoire de Diagnostic Moleculaire Hopital Saint-Francois d'Assise du CHU de Québec UL
Canada
11
  • T Targeted variant analysis

HFE-Associated Hereditary Hemochromatosis

Molecular Genetics Laboratory London Health Sciences Centre
Canada
11
  • T Targeted variant analysis

Cardiology Sequencing- Arrhythmia Comprehensive Panel (134 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
88134
  • X Mutation scanning of select exons

Cardiology Sequencing- Full Panel (174 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
122174
  • X Mutation scanning of select exons

Carrier Screening - Comprehensive Panel (145 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
185145
  • D Deletion/duplication analysis
  • I Microsatellite instability testing (MSI)
  • X Mutation scanning of select exons
  • T Targeted variant analysis

HFE Targeted Mutation Analysis for Hemochromatosis

Molecular Diagnostics Laboratory Duke University Health System
United States
11
  • T Targeted variant analysis

Haemochromatosis

Molecular Genetics Laboratory London Health Sciences Centre
Canada
11
  • T Targeted variant analysis

HFE - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
61
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

BMP2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • 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 Skeletal Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
624349
  • D Deletion/duplication analysis

Invitae Limb and Digital Malformations Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
356177
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hemochromatosis, 235200, Autosomal recessive (Symptomatic form of hemochromatosis type 1) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Hemochromatosis, 235200, Autosomal recessive (Symptomatic form of hemochromatosis type 1) (HFE gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

HFE hemochromatosis, modifier of, 235200, Autosomal recessive (Symptomatic form of hemochromatosis type 1) (BMP2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • 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 78 Gene Actionable Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
22075
  • 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

HFE - Porphyria Cutanea Tarda

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 95

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.