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Results: 21 to 30 of 30

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hereditary Anemias Panel

Mendelics
Brazil
1183
  • C Sequence analysis of the entire coding region

Mitochondrial genome sequencing

Molecular Vision Laboratory
United States
525339
  • C Sequence analysis of the entire coding region

Prenatal Known Familial Mutation

GeneDx
United States
11716
  • D Deletion/duplication analysis
  • T Targeted variant analysis

Custom XomeDxSlice (2-150 Genes, Proband Only)

GeneDx
United States
11718
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Diamond-Blackfan anemia: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
2020
  • C Sequence analysis of the entire coding region

3-Methylglutaconic aciduria: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
88
  • C Sequence analysis of the entire coding region

Comprehensive Primary Immunodeficiency NGS Panel

Fulgent Genetics
United States
1048472
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RPS15A Single Gene

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

Diamond-Blackfan anemia 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
425
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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: 21 to 30 of 30

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.