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Results: 1 to 20 of 22 (representing 14 labs)

Tests names and labsConditionsGenes and analytesMethods

Protoporphyria, erythropoietic, X-linked

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

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

NGS Panel for Erythropoietic protoporphyria and congenital erythropoietic porphyria

BLOODGENETICS
Spain
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

ALAS2

Department of Clinical Genetics Odense University Hospital
Denmark
11
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

X-linked Sideroblastic Anemia via the ALAS2 Gene

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

Inherited Bone Marrow Failure Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
2861
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
845637
  • D Deletion/duplication analysis

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
242171
  • 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

ERYTHROPOIETIC PROTOPORPHYRIA

Laboratorio de Genetica Clinica SL
Spain
22
  • 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

ALAS2 Deletion/duplication analysis

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

ALAS2 Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

nucSEEK® Focus Nuclear Mitochondrial Gene Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
166172
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia and differential diagnoses Panel

CeGaT GmbH
Germany
174204
  • C Sequence analysis of the entire coding region

ALAS2

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nuclear-Mito NGS Panel

Fulgent Genetics
United States
601504
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 22

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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