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Results: 41 to 56 of 56

Tests names and labsConditionsGenes, analytes, and microbesMethods

TRANSCOBALAMIN II DEFICIENCY

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

Transcobalamin II Deficiency , Sequencing TCN2 Gene

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

Severe Congenital Neutropenia Gene Set

Clinical Genomics Laboratory Washington University in St. Louis
United States
2848
  • C Sequence analysis of the entire coding region

Defects of phagocytosis Panel

CeGaT GmbH
Germany
3759
  • C Sequence analysis of the entire coding region

Bone marrow failure syndromes (Metabolism) Panel

CeGaT GmbH
Germany
54
  • C Sequence analysis of the entire coding region

Methylmalonic Acidemia Sequencing NextGen Panel

Children's Hospital Colorado Precision Diagnostics Laboratory Children's Hospital Colorado
United States
2513
  • C Sequence analysis of the entire coding region

TRANSCOBALAMIN II DEFICIENCY

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

TCN2 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

TCN2 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
2629
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TCN2 Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Inherited Neutropenia panel by next-generation sequencing (NGS)

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
3940
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Methylmalonic Acid Metabolism NGS Panel

Fulgent Genetics
United States
1313
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cobalamin Homocysteine Methionine NGS Panel

Fulgent Genetics
United States
2320
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS)

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
112116
  • C Sequence analysis of the entire coding region

Results: 41 to 56 of 56

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.