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Results: 1 to 20 of 75

Tests names and labsConditionsGenes, analytes, and microbesMethods

PlateletGenex Thrombocytopenia Panel (26 genes) (2 Day STAT TAT)

Machaon Diagnostics
United States
2226
  • C Sequence analysis of the entire coding region

Comprehensive HemeComplete Profile + Heme Fusion + CALR PCR + FLT3 PCR

PathGroup
United States
16160
  • T Targeted variant analysis

CALR - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

THPO - NGS including CNV analysis

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

Blood Coagulation Panel

Centogene AG - the Rare Disease Company
Germany
110112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
754562
  • D Deletion/duplication analysis

Invitae Familial Essential Thrombocythemia Panel

Invitae
United States
93
  • D Deletion/duplication analysis

Myeloid NextGen Sequencing Assay with Calreticulin Exon 9 Mutation

PathGroup
United States
1665
  • T Targeted variant analysis

Myeloid NextGen Sequencing Assay

PathGroup
United States
1665
  • T Targeted variant analysis

Myeloid NextGen Sequencing Assay with FLT3 ITD and TKD Analysis

PathGroup
United States
1665
  • T Targeted variant analysis

Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel

PreventionGenetics, part of Exact Sciences
United States
346160
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Myeloid Profile + CALR PCR + FLT3 PCR

PathGroup
United States
1665
  • T Targeted variant analysis

Invitae Limb and Digital Malformations Panel

Invitae
United States
356177
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MarrowZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
249155
  • C Sequence analysis of the entire coding region

Inherited Bone Marrow Failure Panel

PreventionGenetics, part of Exact Sciences
United States
266186
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Thrombocythemia, somatic, 187950 (Essential thrombocythemia) (SH2B3 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

Thrombocythemia, somatic, 187950 (Essential thrombocythemia) (CALR 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

Thrombocythemia 1, 187950, Autosomal dominant; THCYT1 (Essential thrombocythemia) (THPO 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

Calreticulin Exon 9 Mutation, JAK2 V617F Quant and Exons 12-15 and MPL Mutation Analysis

PathGroup
United States
93
  • T Targeted variant analysis

Results: 1 to 20 of 75

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.