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Results: 1 to 20 of 72

Tests names and labsConditionsGenes, analytes, and microbesMethods

Variegate Porphyria

Diagenom GmbH
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Variegate Porphyria via the PPOX 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

Variegate Porphyria: gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

PPOX - Variegate Porphyria

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

Porphyrins, F

Mayo Clinic Laboratories Mayo Clinic
United States
61
  • A Analyte

Porphyrins, QN, Random, U

Mayo Clinic Laboratories Mayo Clinic
United States
53
  • A Analyte

Porphobilinogen, QN, Random, U

Mayo Clinic Laboratories Mayo Clinic
United States
31
  • A Analyte

PBG and ALA, P

Mayo Clinic Laboratories Mayo Clinic
United States
42
  • A Analyte

Aminolevulinic Acid, U

Mayo Clinic Laboratories Mayo Clinic
United States
41
  • A Analyte

Porphyrins, Total, P

Mayo Clinic Laboratories Mayo Clinic
United States
21
  • A Analyte

Acute Porphyria Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
34
  • 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

CentoMetabolic MOx

Centogene AG - the Rare Disease Company
Germany
195221
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

PPOX - NGS including CNV analysis

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

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoMito Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
406414
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoSkin Panel

Centogene AG - the Rare Disease Company
Germany
157151
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 72

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.