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Results: 1 to 20 of 35 (representing 18 labs)

Tests names and labsConditionsGenes and analytesMethods

Porphyria variegata

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

PPOX Gene, Full Gene Analysis

Mayo Clinic Genetic Testing Laboratories Mayo Clinic
United States
21
  • C Sequence analysis of the entire coding region

Acute Porphyria, Multi-Gene Panel

Mayo Clinic Genetic Testing Laboratories Mayo Clinic
United States
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

Acute/Neurovisceral Porphyria Sequencing Panel

PreventionGenetics
United States
44
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Variegate Porphyria via the PPOX Gene

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

PPOX. Complete sequencing

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

HFE Mutation Panel

Baylor Genetics
United States
61
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
845637
  • D Deletion/duplication analysis

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

PPOX

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

Autoinflammatory Disorders Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
4126
  • D Deletion/duplication analysis
  • 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

Hereditary Hemochromatosis Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
75
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Abdominal Pain Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
6641
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HFE Gene Sequencing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
31
  • C Sequence analysis of the entire coding region

Hemochromatosis NGS Panel

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
157
  • C Sequence analysis of the entire coding region

Porphyria variegata

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Porphyria variegata (sequence anaçysis of PPOX gene)

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

Results: 1 to 20 of 35

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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