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Results: 1 to 20 of 28 (representing 15 labs)

Tests names and labsConditionsGenes and analytesMethods

Neutropenia, severe congenital type 4, autosomal recessive

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 (Dursun Syndrome) via the G6PC3 Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

G6PC3 mutation analysis

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

NEUTROPENIA, SEVERE CONGENITAL OR KOSTMANN SYNDROME (AUTOSOMAL RECESSIVE)

Laboratorio de Genetica Clinica SL
Spain
55
  • C Sequence analysis of the entire coding region

Severe Congenital Neutropenia Type 4 , Sequencing G6PC3 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

Invitae Monogenic Inflammatory Bowel Disease Panel

Invitae
United States
8746
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

G6PC3 Gene Sequencing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
11
  • 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

CHOP Comprehensive Hereditary Cancer Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
92106
  • C Sequence analysis of the entire coding region

Defects of phagocytosis Panel

CeGaT GmbH
Germany
3759
  • 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

CarrierMap

Recombine
United States
300298
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Single gene testing G6PC3

CeGaT GmbH
Germany
11
  • C Sequence analysis of the entire coding region

G6PC3 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 28

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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