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Results: 1 to 20 of 27

Tests names and labsConditionsGenes and analytesMethods

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

GFI1 mutation analysis

Laboratory of genome diagnostics Academic Medical Center, 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

Severe Congenital Neutropenia (Extended Panel) , Panel Massive Sequencing (NGS) 20 Genes

Reference Laboratory Genetics
Spain
2220
  • C Sequence analysis of the entire coding region

Severe Congenital Neutropenia , Panel Massive Sequencing (NGS) 9 Genes

Reference Laboratory Genetics
Spain
109
  • C Sequence analysis of the entire coding region

Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes

Reference Laboratory Genetics
Spain
6358
  • C Sequence analysis of the entire coding region

Severe Congenital Neutropenia Type 2 , Sequencing GFI1 Gene

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

Invitae Phagocyte Defects Panel

Invitae
United States
4227
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Primary Immunodeficiency Panel

Invitae
United States
282207
  • D Deletion/duplication analysis
  • 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

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

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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