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Results: 1 to 20 of 24

Tests names and labsConditionsGenes, analytes, and microbesMethods

COL7A1 MLPA

Institute for Human Genetics University Medical Center Freiburg
Germany
71
  • D Deletion/duplication analysis

MYSM1 - NGS including CNV analysis

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

CentoImmuno Panel

Centogene AG - the Rare Disease Company
Germany
323329
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
755562
  • D Deletion/duplication analysis

MarrowZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
250155
  • C Sequence analysis of the entire coding region

Inherited Bone Marrow Failure Panel

PreventionGenetics, part of Exact Sciences
United States
267186
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel

Invitae
United States
177130
  • D Deletion/duplication analysis

Invitae Primary Immunodeficiency Panel

Invitae
United States
552424
  • D Deletion/duplication analysis

Invitae Agammaglobulinemia Panel

Invitae
United States
3936
  • D Deletion/duplication analysis

Invitae Bone Marrow Failure Syndromes Panel

Invitae
United States
13885
  • D Deletion/duplication analysis

Invitae Diamond-Blackfan Anemia Panel

Invitae
United States
1613
  • D Deletion/duplication analysis

Hematological Malignancies Hereditary Panel 

CGC Genetics Unilabs
Portugal
1147
  • C Sequence analysis of the entire coding region

Hematology Comprehensive Panel 

CGC Genetics Unilabs
Portugal
1291
  • C Sequence analysis of the entire coding region

Bone Marrow Failure Syndrome Panel 

CGC Genetics Unilabs
Portugal
1175
  • C Sequence analysis of the entire coding region

Anemia Panel

CGC Genetics Unilabs
Portugal
1174
  • C Sequence analysis of the entire coding region

Immune Disorders Panel

CGC Genetics Unilabs
Portugal
1385
  • C Sequence analysis of the entire coding region

Hereditary Anemias Panel

Mendelics
Brazil
1183
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

MYSM1 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

Bone marrow failure syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
55
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 24

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.