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Results: 1 to 20 of 37

Tests names and labsConditionsGenes, analytes, and microbesMethods

NGS Panel for Congenital Erythrocythosis or Familiar Polycythemia

BloodGenetics
Spain
1211
  • C Sequence analysis of the entire coding region

HemeZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
10796
  • C Sequence analysis of the entire coding region

EPOR - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • 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

Invitae Familial Erythrocytosis Panel

Invitae
United States
95
  • D Deletion/duplication 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

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

Erythrocytosis, somatic, 133100; ECYT1 (codon 617 mutations ve ekzon 12-14) (JAK2 gene) (Dizi Analizi) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • E Sequence analysis of select exons

Erythrocytosis, somatic, 133100 (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

[Erythrocytosis, familial, 1], 133100, Autosomal dominant (Primary familial polycythemia) (EPOR 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

Primary Familial and Congenital Polycythemia (PFCP) via the EPOR Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Erythrocytosis Panel, Sequencing

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
78
  • C Sequence analysis of the entire coding region

Hypereosinophilic Syndrome Genetic Panel

Duzen Laboratories Duzen BBAGUAS
Turkey
56
  • I FISH-interphase

JAK2 Exon 12 Mutations

Duzen Laboratories Duzen BBAGUAS
Turkey
41
  • E Sequence analysis of select exons

JAK2 V617F

Duzen Laboratories Duzen BBAGUAS
Turkey
41
  • T Targeted variant analysis

JAK2 rearrangements

Duzen Laboratories Duzen BBAGUAS
Turkey
41
  • I FISH-interphase

EPOR gene Ekzon 8 sequence analysis

Duzen Laboratories Duzen BBAGUAS
Turkey
11
  • E Sequence analysis of select exons

EPOR 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

Results: 1 to 20 of 37

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.