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Results: 21 to 40 of 45

Tests names and labsConditionsGenes, analytes, and microbesMethods

Protoporphyria, erythropoietic, X-linked, 300752, X-linked dominant; XLEPP (X-linked erythropoietic protoporphyria) (ALAS2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Protoporphyria, erythropoietic, X-linked, 300752, X-linked dominant; XLEPP (X-linked erythropoietic protoporphyria) (ALAS2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Chronic/Cutaneous Porphyria Panel

PreventionGenetics, part of Exact Sciences
United States
66
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Invitae Bone Marrow Failure Syndromes Panel

Invitae
United States
13785
  • D Deletion/duplication analysis

X-linked Sideroblastic Anemia via the ALAS2 Gene

PreventionGenetics, part of Exact Sciences
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Inherited Bone Marrow Failure Panel

Genetic Services Laboratory University of Chicago
United States
2959
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
240171
  • D Deletion/duplication analysis

Hereditary Bone Marrow Failure Panel, Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
5075
  • D Deletion/duplication analysis
  • 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

ALAS2 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • D Deletion/duplication analysis

Mitochondrial genome sequencing

Molecular Vision Laboratory
United States
526339
  • C Sequence analysis of the entire coding region

Protoporphyria, erythropoietic: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
22
  • 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

Congenital Sideroblastic Anemia NGS Panel

Fulgent Genetics
United States
248
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Protoporphyria: gene sequencing

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

Porphyria

Asper Biogene Asper Biogene LLC
Estonia
109
  • 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

Results: 21 to 40 of 45

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.