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Results: 21 to 40 of 100

Tests names and labsConditionsGenes, analytes, and microbesMethods

Bone Marrow Failure / Anemia Panel

Centogene AG - the Rare Disease Company
Germany
212212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • 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

Invitae Facial Dysostosis and Frontonasal Dysplasia Panel

Invitae
United States
4428
  • D Deletion/duplication analysis

5-Cell Confirmation Chromosome Analysis, Tissue

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
3231
  • K Karyotyping

5-Cell Confirmation Chromosome Analysis, Amniotic Fluid

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
3231
  • K Karyotyping

5-Cell Confirmation Chromosome Analysis, Peripheral Blood

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
3231
  • K Karyotyping

Chromosome Analysis (High Resolution), Cord Blood

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
3231
  • K Karyotyping

Chromosome Analysis, Amniotic Fluid

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
3231
  • K Karyotyping

STAT Chromosome Analysis, Peripheral Blood

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
3231
  • K Karyotyping

Chromosome Analysis, Tissue (Postnatal, POC, or Autopsy)

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
3231
  • K Karyotyping

Chromosome Analysis (High Resolution), Peripheral Blood

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
3231
  • K Karyotyping

Invitae Hereditary Hemolytic Anemia Panel

Invitae
United States
7439
  • D Deletion/duplication analysis

Invitae Congenital Dyserythropoietic Anemia (CDA) Panel

Invitae
United States
127
  • D Deletion/duplication analysis

Invitae Comprehensive Porphyrias Panel

Invitae
United States
1510
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MarrowZoom

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

Non-Immune Hydrops Fetalis Panel

PreventionGenetics, part of Exact Sciences
United States
291148
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Leukemia, megakaryoblastic, with or without Down syndrome, somatic, 190685 (Thrombocytopenia with congenital dyserythropoietic anemia) (GATA1 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

Results: 21 to 40 of 100

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.