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Results: 1 to 20 of 55

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

Invitae
United States
3927
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Limb and Digital Malformations Panel

Invitae
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) (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

Invitae
United States
409164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae 78 Gene Actionable Disorders Panel

Invitae
United States
22075
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HFE - Porphyria Cutanea Tarda

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

HFE - hemochromatosis type 1 (whole gene)

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

BMP6 - non-HFE related hemochromatosis

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
11
  • 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
89
  • C Sequence analysis of the entire coding region

Comprehensive Cardiology Panel

PreventionGenetics, part of Exact Sciences
United States
223198
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Differences of Sex Development (DSD) Panel

PreventionGenetics, part of Exact Sciences
United States
149158
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Differences of Sex Development (DSD) and Infertility Panel

PreventionGenetics, part of Exact Sciences
United States
223238
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Male Infertility Panel

PreventionGenetics, part of Exact Sciences
United States
128139
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Female Infertility Panel

PreventionGenetics, part of Exact Sciences
United States
96105
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

BMP2

Institute for Human Genetics University Medical Center Freiburg
Germany
31
  • C Sequence analysis of the entire coding region

Inherited Metabolic Disorders Panel

Dhiti Omics Technologies Private Ltd
India
376317
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 55

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.