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Results: 1 to 20 of 87

Tests names and labsConditionsGenes, analytes, and microbesMethods

Platelet disorder, familial, with associated myeloid malignancy, 601399, Autosomal dominant; FPDMM (Familial platelet syndrome with predisposition to acute myelogenous leukemia) (RUNX1 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

Platelet disorder, familial, with associated myeloid malignancy, 601399, Autosomal dominant; FPDMM (Familial platelet syndrome with predisposition to acute myelogenous leukemia) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

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

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

Familial Platelet Disorder with Propensity to Acute Myelogenous Leukemia

Genetic Pathology SA Pathology
Australia
11
  • D Deletion/duplication analysis
  • 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

CentoCancer Comprehensive

Centogene AG - the Rare Disease Company
Germany
155107
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Myeloid Tumor Panel

Centogene AG - the Rare Disease Company
Germany
7434
  • C Sequence analysis of the entire coding region

RUNX1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • 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 Multi-Cancer + RNA Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
14263
  • D Deletion/duplication analysis

Invitae Inborn Errors of Immunity and Cytopenias Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
754562
  • D Deletion/duplication analysis

Invitae Inherited Platelet Disorders Including Thrombocytopenia Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
7050
  • 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

Comprehensive Myeloid Profile + CALR PCR + FLT3 PCR

PathGroup
United States
1665
  • T Targeted variant analysis

MarrowZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
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

Comprehensive HemeComplete Profile with IGH Somatic Hypermutation

PathGroup
United States
13161
  • E Sequence analysis of select exons
  • T Targeted variant analysis

Results: 1 to 20 of 87

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.