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Results: 41 to 60 of 61

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

Reference Laboratory Genetics
Spain
77
  • C Sequence analysis of the entire coding region

Invitae Acute Hepatic Porphyrias Panel

Invitae
United States
54
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Porphyria

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

PORPHYRIA, ACUTE INTERMITTENT

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

Hepatic Porphyria , Panel Deletions-Duplications (MLPA) ALAD, HMBS, PPOX

Reference Laboratory Genetics
Spain
33
  • D Deletion/duplication analysis

Acute Intermittent Porphyria , Sequencing HMBS Gene

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

Acute intermittent porphyria

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

Comprehensive Hereditary Cancer Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
128130
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Acute intermittent porphyria

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

HMBS

Institute of Human Genetics Medical University Innsbruck
Austria
11
  • S Mutation scanning of the entire coding region

HMBS 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

Porphyria, acute intermittent

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

Porphobilinogen, Quantitative, Random Urine

Quest Diagnostics Nichols Institute San Juan Capistrano
United States
41
  • A Analyte

Porphyria, acute intermittent

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

Acute Intermittent Porphyria

Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
India
11
  • C Sequence analysis of the entire coding region

PORPHYRIA

Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
India
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

HMBS - Acute Intermittent Porphyria

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

Results: 41 to 60 of 61

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.