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Results: 1 to 20 of 21

Tests names and labsConditionsGenes, analytes, and microbesMethods

SAMD9 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • 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

Invitae Inherited Platelet Disorders Including Thrombocytopenia Panel

Invitae
United States
7050
  • D Deletion/duplication analysis

Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel

PreventionGenetics, Part of Exact Sciences
United States
345159
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant 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

MIRAGE syndrome, 617053, Autosomal dominant; MIRAGE (SAMD9 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

MIRAGE syndrome, 617053, Autosomal dominant; MIRAGE (SAMD9 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Congenital Diarrhea and Enteropathies Panel

PreventionGenetics, Part of Exact Sciences
United States
241157
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Myeloid Malignancy Panel

Genetic Services Laboratory University of Chicago
United States
3785
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Primary Immunodeficiency Panel

Invitae
United States
552424
  • D Deletion/duplication analysis

Invitae Hereditary Myelodysplastic Syndrome/Leukemia Panel

Invitae
United States
7632
  • D Deletion/duplication analysis

Invitae Bone Marrow Failure Syndromes Panel

Invitae
United States
13885
  • D Deletion/duplication analysis

Hereditary Myelodysplastic Syndrome (MDS) / Acute Myeloid Leukemia (AML) Panel

PreventionGenetics, Part of Exact Sciences
United States
1212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Inherited Bone Marrow Failure Panel

Genetic Services Laboratory University of Chicago
United States
3059
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cancer Panel

PreventionGenetics, Part of Exact Sciences
United States
122117
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Bone marrow failure syndrome panel. NGS panel of 122 genes.

Genologica Medica
Spain
194122
  • C Sequence analysis of the entire coding region

Hereditary Leukemia and Breast Cancer Panel

Genetic Services Laboratory University of Chicago
United States
731
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Hereditary Cancer Panel

Genetic Services Laboratory University of Chicago
United States
25139
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 21

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.