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Results: 21 to 32 of 32

Tests names and labsConditionsGenes, analytes, and microbesMethods

DIAMOND-BLACKFAN ANEMIA EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
117
  • E Sequence analysis of select exons

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

RPS27 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

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

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

Diamond-Blackfan anemia: Full gene sequencing panel

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

RPS27 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 32 of 32

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.