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Results: 1 to 20 of 70 (representing 25 labs)

Tests names and labsConditionsGenes and analytesMethods

NBIA Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
910
  • C Sequence analysis of the entire coding region

NBIA Deletion/Duplication Analysis

Genetic Services Laboratory University of Chicago
United States
1010
  • D Deletion/duplication analysis

Parkinsons disease panel

Centogene AG - the Rare Disease Company
Germany
2830
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Hyperferritinemia-cataract syndrome

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cataract panel

Centogene AG - the Rare Disease Company
Germany
4845
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FTL sequencing

Genetic Services Laboratory University of Chicago
United States
11
  • C Sequence analysis of the entire coding region

NGS Panel for Hemochromatosis and Hyperferritinemia /Hypoferritinemia Panel

BLOODGENETICS
Spain
108
  • C Sequence analysis of the entire coding region

Dystonia Exome Panel

Genetic Services Laboratory University of Chicago
United States
93170
  • C Sequence analysis of the entire coding region

Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Sequencing Panel

PreventionGenetics
United States
1211
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Hereditary Hemochromatosis Sequencing Panel

PreventionGenetics
United States
77
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FTL. Secuencing of the IRE region

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

FTL deletion/duplication analysis

Genetic Services Laboratory University of Chicago
United States
11
  • D Deletion/duplication analysis

Neurodegeneration with Brain Iron Accumulation

Asper Biotech Asper Biotech Ltd.
Estonia
1010
  • C Sequence analysis of the entire coding region

Hyperferritinemia cataract syndrome

Labor Dr. Wisplinghoff
Germany
11
  • C Sequence analysis of the entire coding region

L-ferritin deficiency

Labor Dr. Wisplinghoff
Germany
11
  • C Sequence analysis of the entire coding region

Neuroferritinopathy

Labor Dr. Wisplinghoff
Germany
11
  • C Sequence analysis of the entire coding region

Cataract

Asper Biotech Asper Biotech Ltd.
Estonia
4644
  • C Sequence analysis of the entire coding region

Cataract Panel

Blueprint Genetics
Finland
154
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 70

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.

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