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Results: 1 to 20 of 39

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

Thrombocytopenia X linked

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

Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel

Genetic Services Laboratory University of Chicago
United States
3679
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Thrombocytopenia Sequencing Panel - Expanded

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

Thrombocytopenia Sequencing Panel

PreventionGenetics
United States
1512
  • 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

Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
4926
  • D Deletion/duplication analysis

Thrombocytopenia

Asper Biogene Asper Biogene LLC
Estonia
1113
  • C Sequence analysis of the entire coding region

Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel

Invitae
United States
3621
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Syndromic Combined Immunodeficiency (CID) Panel

Invitae
United States
5637
  • D Deletion/duplication analysis
  • 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

Invitae Monogenic Autoimmunity Panel

Invitae
United States
10973
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Severe combined immunodeficiency Del/dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
1718
  • D Deletion/duplication analysis

Severe combined immunodeficency Seq Analysis

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
1718
  • C Sequence analysis of the entire coding region

Severe combined immunodeficiency Seq + Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
1718
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 39

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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