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Results: 61 to 80 of 80

Tests names and labsConditionsGenes, analytes, and microbesMethods

Ataxia Xpanded Panel

GeneDx
United States
1999
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpiXpanded Panel

GeneDx
United States
11501
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MitoXpanded Panel

GeneDx
United States
11818
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Bone Marrow Failure Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
190
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Bone Marrow Failure (BMF)/Myelodysplastic Syndrome (MDS)/Leukemia Predisposition Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
4112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Inherited Red Blood Cell Disorder Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
1752
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Anemia, Sideroblastic: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
44
  • 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

Nonketotic Hyperglycinemia / Glycine Encephalopathy Panel

Blueprint Genetics
Finland
19
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Sideroblastic Anemia , Panel Massive Sequencing (NGS) 6 Genes

Reference Laboratory Genetics
Spain
66
  • C Sequence analysis of the entire coding region

Hereditary Sideroblastic Anemia

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

Glutaredoxin 5 deficiency (GLRX5)

Amsterdam UMC, Location AMC Laboratory Genetic Metabolic Diseases, LGMD
Netherlands
11
  • C Sequence analysis of the entire coding region

Comprehensive Metabolism Panel

Blueprint Genetics
Finland
14434
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GLRX5 Sequencing

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Nuclear encoded Mitochondriopathies Panel

CeGaT GmbH
Germany
37302
  • C Sequence analysis of the entire coding region

Mitochondrial Diseases (mtDNA and 217 nuclear genes)

Asper Biogene Asper Biogene LLC
Estonia
89210
  • C Sequence analysis of the entire coding region

GLRX5 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

Pyridoxine-Refractory Sideroblastic Anemia, Autosomal Recessive

BloodGenetics
Spain
12
  • C Sequence analysis of the entire coding region

Results: 61 to 80 of 80

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.