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Results: 1 to 16 of 16

Tests names and labsConditionsGenes, analytes, and microbesMethods

Erythrocytosis, familial, 3, 609820, Autosomal dominant; ECYT3 (Autosomal dominant secondary polycythemia) (EGLN1 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

Mitochondrial cytopathies (mutations del4977bp, G3460A, G11778A, T8993C, T8993G, A3271G, A3243G, T8356C, A8344G)

CGC Genetics Unilabs
Portugal
13
  • C Sequence analysis of the entire coding region

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 University, School of Medicine
United States
10796
  • C Sequence analysis of the entire coding region

Invitae Familial Erythrocytosis Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
95
  • D Deletion/duplication 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

Erythrocytosis familial, 3 (sequence analysis of EGLN1 gene)

CGC Genetics Unilabs
Portugal
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

EGLN1 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • 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

Full Comprehensive Cancer Panel

Fulgent Genetics
United States
329127
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EGLN1 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
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 16 of 16

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.