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Results: 1 to 20 of 27 (representing 14 labs)

Tests names and labsConditionsGenes and analytesMethods

Neutropenia, nonimmune chronic idiopathic, of adults

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

Neutropenia, severe congenital type 2, autosomal dominant

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

Severe Congenital Neutropenia Sequencing Panel

PreventionGenetics
United States
98
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Severe Congenital Neutropenia Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
28
  • C Sequence analysis of the entire coding region

Inherited Bone Marrow Failure Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
2457
  • C Sequence analysis of the entire coding region

GFI1 mutation analysis

DNA Diagnostics Laboratory Academic Medical Centre, University of Amsterdam
Netherlands
21
  • C Sequence analysis of the entire coding region

Severe Congenital Neutropenia via the GFI1 gene

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Inherited Bone Marrow Failure Panel

NeoGenomics Laboratories
United States
958
  • C Sequence analysis of the entire coding region

Neutropenia

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
89
  • 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

GFI1 Gene Sequencing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
21
  • C Sequence analysis of the entire coding region

Severe Congenital Neutropenia, Nonsyndromic NGS Panel

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
96
  • C Sequence analysis of the entire coding region

Severe congenital neutropenia type 2

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

Hereditary neutropenia (NGS panel for 22 genes)

CGC Genetics
Portugal
1722
  • C Sequence analysis of the entire coding region

Severe congenital neutropenia (NGS panel for 7 genes)

CGC Genetics
Portugal
77
  • C Sequence analysis of the entire coding region

Neutropenia, severe congenital 2 (SCN2): GFI1 gene sequence analysis

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
11
  • C Sequence analysis of the entire coding region

GFI1 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

GFI1 Deletion/duplication analysis

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

Inherited Neutropenia Deletion/Duplication Panel

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

Results: 1 to 20 of 27

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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