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Results: 1 to 20 of 29

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

ELANE mutation analysis

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

Periodic Fever Syndrome Panel

Blueprint Genetics
Finland
139
  • 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

ELANE. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

Severe Congenital Neutropenia and Cyclic Neutropenia via the ELANE Gene

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

Periodic Fever Syndromes Panel, Sequencing, 7 Genes and Deletion/Duplication, 6 Genes

ARUP Laboratories, Molecular Genetics University of Utah ARUP Lab
United States
107
  • 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

Periodic Fever NGS Panel

DDC Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
199
  • 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 Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
96
  • C Sequence analysis of the entire coding region

Cyclic neutropenia

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

Single gene testing ELANE

CeGaT GmbH
Germany
21
  • C Sequence analysis of the entire coding region

Cyclic neutropenia (sequence analysis of ELANE gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

aCGH Deletion/Duplication Analysis

BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin
United States
6065
  • D Deletion/duplication analysis

ELA2 (ELANE) Deletion/duplication analysis

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • D Deletion/duplication analysis

ELANE-related neutropenia, ELANE (ELA2) sequencing

Molecular Diagnostics Laboratory Seoul National University Hospital
South Korea
11
  • C Sequence analysis of the entire coding region

WAS Sequence Analysis

BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin
United States
51
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 29

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.