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Results: 1 to 20 of 23

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Porphyria congenital erythropoietic

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

NGS Panel for Erythropoietic protoporphyria and congenital erythropoietic porphyria

BLOODGENETICS
Spain
33
  • C Sequence analysis of the entire coding region

Chronic/Cutaneous Porphyria Sequencing Panel

PreventionGenetics
United States
66
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Porphyria Sequencing Panel

PreventionGenetics
United States
88
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Erythropoietic Porphyria via the UROS Gene

PreventionGenetics
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

UROS. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

UROS

Department of Clinical Genetics Odense University Hospital
Denmark
11
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Porphyria

Asper Biogene Asper Biogene LLC
Estonia
109
  • C Sequence analysis of the entire coding region

Congenital Erythropoietic Porphyria , Sequencing UROS Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Porphyria Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
1210
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Porphyria Panel

Blueprint Genetics
Finland
19
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Metabolism Panel

Blueprint Genetics
Finland
14354
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hepatic and pancreatic diseases - panels

Medizinisch Genetisches Zentrum München MGZ München
Germany
469
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NGS Non-immune Hydrops Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
8687
  • C Sequence analysis of the entire coding region

Porphyria congenital erythropoietic (sequence analysis of UROS gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

UROS

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nuclear-Mito NGS Panel

Fulgent Genetics
United States
601504
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 23

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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