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Results: 1 to 20 of 34

Tests names and labsConditionsGenes, analytes, and microbesMethods

EPAS1 Gene Erythrocytosis, familial type 4 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning 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

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

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

Endeavor

PathGroup
United States
73505
  • C Sequence analysis of the entire coding region

MarrowZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
249155
  • C Sequence analysis of the entire coding region

GTC-Solid Tumor Profile Plus Fusion/Expression (DNA and RNA)

Genomic Testing Cooperative, LCA
United States
1434
  • R RNA analysis
  • C Sequence analysis of the entire coding region

GTC-Solid Tumor Profile

Genomic Testing Cooperative, LCA
United States
1434
  • C Sequence analysis of the entire coding region

GTC-Hematology Profile Plus Fusion/Expression (DNA and RNA)

Genomic Testing Cooperative, LCA
United States
1254
  • R RNA analysis
  • C Sequence analysis of the entire coding region

GTC-Hematology Profile

Genomic Testing Cooperative, LCA
United States
1247
  • 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 Pheochromocytoma and Paraganglioma Panel

Genetic Services Laboratory University of Chicago
United States
1016
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NGS panel Pheocromocytoma/Paraganglioma

Centro de Investigaciones Endocrinológicas “Dr. César Bergadá” (CEDIE), Unidad de Investigacion Traslacional (UIT) Hospital de Niños Dr. Ricardo Gutiérrez
Argentina
130
  • C Sequence analysis of the entire coding region

Oncological diseases panel _v.2.0

CGC Genetics Unilabs
Portugal
1205
  • C Sequence analysis of the entire coding region

Haematological diseases panel _v.2.0

CGC Genetics Unilabs
Portugal
1344
  • C Sequence analysis of the entire coding region

Bleeding Disorders Panel 

CGC Genetics Unilabs
Portugal
1121
  • C Sequence analysis of the entire coding region

Erythrocytosis familial, 4 (sequence analysis of EPAS1 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Hereditary Cancer Panel (Complete)

Mendelics
Brazil
1264
  • C Sequence analysis of the entire coding region

HEREDITARY CANCER EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1249
  • E Sequence analysis of select exons

Results: 1 to 20 of 34

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.