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Results: 21 to 35 of 35

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

Erythropoietic Protoporphyria, Autosomal Recessive: gene deletion/duplication

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • D Deletion/duplication analysis

Erythropoietic Protoporphyria, Autosomal Recessive: gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • 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

ERYTHROPOIETIC PROTOPORPHYRIA

Laboratorio de Genetica Clinica SL
Spain
22
  • C Sequence analysis of the entire coding region

Erythropoietic Protoporphyria , Deletions-Duplications (MLPA) FECH Gene

Reference Laboratory Genetics
Spain
11
  • D Deletion/duplication analysis

Erythropoietic Protoporphyria , Sequencing FECH Gene

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

Protoporphyria, erythropoietic, autosomal recessive

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

FECH

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

FECH 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

Erythropoietic Protoporphyria, Autosomal Recessive - FECH

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

Erythropoietic Protoporphyria

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

Results: 21 to 35 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.