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Results: 1 to 20 of 21 (representing 14 labs)

Tests names and labsConditionsGenes and analytesMethods

Congenital sideroblastic anemia panel

Centogene AG - the Rare Disease Company
Germany
88
  • C Sequence analysis of the entire coding region

Anemia, sideroblastic, 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

Hyperferritinemia Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
1515
  • 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
2457
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Genetics
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

X linked Sideroblastic Anemia

Diagnostics in Iron Metabolism Diseasess (DIRON) Josep Carreras Leukaemia Research Institute
Spain
11
  • C Sequence analysis of the entire coding region

Anemia, sideroblastic, X-linked: ALAS2 gene sequence analysis

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
11
  • 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

Congenital sideroblastic anemia

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

X-linked sideroblastic anemia (sequence analysis of ALAS2 gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

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 21

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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