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Results: 1 to 20 of 38 (representing 24 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769513
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769513
  • C Sequence analysis of the entire coding region

Thrombocytopenia NextGen Sequencing (NGS) Panel - Expanded

PreventionGenetics
United States
2925
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Wiskott-Aldrich Syndrome (WAS): WAS (Known Mutation)

Molecular Diagnostic Laboratory LabCorp
United States
11
  • E Sequence analysis of select exons

Wiskott-Aldrich Syndrome (WAS): WAS (Full Gene Sequencing)

Molecular Diagnostic Laboratory LabCorp
United States
11
  • C Sequence analysis of the entire coding region

Thrombocytopenia NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
1512
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Tier 2: Hereditary Lymphoma Panel

Genetic Services Laboratory University of Chicago
United States
1114
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

WAS. Complete sequencing

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

Bleeding Disorders NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
5561
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
242171
  • D Deletion/duplication analysis

Wiskott-Aldrich Syndrome, X-linked Thrombocytopenia, and X-linked Congenital Neutropenia, via the WAS Gene

PreventionGenetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

WAS mutation analysis

DNA Diagnostics Laboratory Academic Medical Centre, University of Amsterdam
Netherlands
41
  • C Sequence analysis of the entire coding region

Thrombocytopenia Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
2631
  • C Sequence analysis of the entire coding region

Severe Congenital Neutropenia Gene Set

Genomics and Pathology Services Washington University - 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

Syndromes with immunodeficiency Panel

CeGaT GmbH
Germany
3338
  • 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

WAS Gene Sequencing

GeneDx
United States
31
  • C Sequence analysis of the entire coding region

Arthrogryposis, distal type 2B (sequence analysis of TNNT3 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

Results: 1 to 20 of 38

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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