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Results: 1 to 13 of 13 (representing 8 labs)

Tests names and labsConditionsGenes and analytesMethods

Poikiloderma with neutropenia

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Poikiloderma with neutropenia, Clericuzio type

Human Genetics University Hospital Bern
Switzerland
11
  • C Sequence analysis of the entire coding region

USB1

Institute for Human Genetics University Clinic Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

ZNF319

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

Severe Congenital Neutropenia Gene Set

Genomics and Pathology Services Washington University in St. Louis
United States
1524
  • C Sequence analysis of the entire coding region

Defects of phagocytosis Panel

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

USB1 (C16orf57) Deletion/Duplication Analysis

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

USB1 (C16orf57) sequencing

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

Inherited Neutropenia Deletion/Duplication Panel

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
2020
  • D Deletion/duplication analysis

Bone Marrow Failure Syndromes Deletion/Duplication Panel

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
4355
  • D Deletion/duplication analysis

USB1

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)

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
2121
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
4759
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 13 of 13

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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