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Results: 1 to 14 of 14

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

EPAS1 - 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 Familial Erythrocytosis Panel

Invitae
United States
95
  • D Deletion/duplication analysis

MarrowZoom

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

Erythrocytosis, familial, 4, 611783; ECYT4 (Autosomal dominant secondary polycythemia) (EPAS1 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

Hereditary Erythrocytosis Panel, Sequencing

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

EPAS1 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

Erythrocytosis, familial: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
710
  • C Sequence analysis of the entire coding region

Comprehensive Thrombosis, Platelet Disorder, and Coagulation Deficiency NGS Panel

Fulgent Genetics
United States
14682
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Erythrocytosis NGS Panel

Fulgent Genetics
United States
6124
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

POLYCYTHEMIA, SECONDARY (AUTOSOMAL DOMINANT)

Laboratorio de Genetica Clinica SL
Spain
22
  • C Sequence analysis of the entire coding region

EPAS1 Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 14 of 14

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.