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Results: 1 to 20 of 20

Tests names and labsConditionsGenes, analytes, and microbesMethods

NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies

BloodGenetics
Spain
3336
  • 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

2,3-Bisphosphoglycerate Mutase, Full Gene Sequencing Analysis

Mayo Clinic Laboratories Mayo Clinic
United States
21
  • 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

NGS Panel for Hereditary Hemolytic Anemias due to red blood cell enzymopathies or Glycogen storage disease

BloodGenetics
Spain
1217
  • C Sequence analysis of the entire coding region

Invitae Familial Erythrocytosis Panel

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

Invitae Hereditary Hemolytic Anemia Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
7439
  • 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 due to bisphosphoglycerate mutase deficiency, 222800, Autosomal recessive (Hemolytic anemia due to diphosphoglycerate mutase deficiency) (BPGM 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

WES metabolic disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
1625
  • E Sequence analysis of select exons

Haematological diseases panel _v.2.0

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

Hereditary Cancer Panel (Complete)

Mendelics
Brazil
1264
  • 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

HEREDITARY ANEMIAS EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1144
  • E Sequence analysis of select exons

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

BPGM 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 NGS Panel

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

Erythrocytosis Panel by next-generation sequencing (NGS)

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
39
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

BPGM 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 20 of 20

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.