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Results: 21 to 39 of 39

Tests names and labsConditionsGenes, analytes, and microbesMethods

Porphyria Panel

PreventionGenetics, part of Exact Sciences
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, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital erythropoietic porphyria (sequence analysis of UROS gene)

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

Porphyria panel. 9-gene NGS panel.

Genologica Medica
Spain
139
  • C Sequence analysis of the entire coding region

UROS Sequencing and Deletion/Duplication Analysis

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Metabolism NGS Panel

Fulgent Genetics
United States
602355
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Porphyria Disorders NGS Panel

Fulgent Genetics
United States
1511
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Porphyria Related Diseases , Panel Massive Sequencing (NGS) 7 Genes

Reference Laboratory Genetics
Spain
77
  • 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

Non-Immune Hydrops NGS Panel

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

UROS Single Gene

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

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nuclear-Mito NGS Panel

Fulgent Genetics
United States
1103676
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Porphyria, congenital erythropoietic

MedGene
Slovakia
11
  • C Sequence analysis of the entire coding region

Porphyrins, Fractionated, Plasma

Quest Diagnostics Nichols Institute San Juan Capistrano
United States
54
  • A Analyte

Porphyrins, Fractionated, Quantitative, Random Urine

Quest Diagnostics Nichols Institute San Juan Capistrano
United States
63
  • A Analyte

Porphyria, congenital erythropoietic

Praxis fuer Humangenetik Wien
Austria
11
  • C Sequence analysis of the entire coding region

UROS - Congenital Erythropoietic Porphyria

Centre for Inherited Metabolic Diseases Karolinska University Hospital
Sweden
11
  • C Sequence analysis of the entire coding region

Results: 21 to 39 of 39

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.