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Results: 1 to 18 of 18

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 Iron related Anemias (including Aceruloplasminemia, Atransferrinemia, IRIDA, DMT1-deficiency =AHMIO1, Hypochromic microcytic anemia with iron overload 2=AHMIO2)

BloodGenetics
Spain
99
  • C Sequence analysis of the entire coding region

NGS Panel for Congenital and Acquired Sideroblastic Anemia

BloodGenetics
Spain
1817
  • C Sequence analysis of the entire coding region

Hyperferritinemia Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
1515
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

NGS Panel for Hereditary Hemolytic Anemias due to Membranopathies (spherocytosis, elliptocytosis, pyropoycylocytosis, ovalocytosis, stomatocytosis) and Gilbert syndrome as a modifier factor

BloodGenetics
Spain
717
  • C Sequence analysis of the entire coding region

Invitae Iron Related Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
3927
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Anemia, hypochromic microcytic, with iron overload 2, 615234, Autosomal dominant; AHMIO2 (Severe congenital hypochromic anemia with ringed sideroblasts) (STEAP3 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 iron disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
2046
  • E Sequence analysis of select exons

panel sideroblastic anemia (ABCB7, GLRX5, HSPA9, SLC25A38, STEAP3, ALAS2, PUS1, YARS2)

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
88
  • C Sequence analysis of the entire coding region

STEAP3 - sideroblastic anemia, autosomal recessive

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
11
  • 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

Anemia Panel

CGC Genetics Unilabs
Portugal
1174
  • C Sequence analysis of the entire coding region

Anemia, hypochromic microcytic, with iron overload 2 (sequence analysis of STEAP3 gene)

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

Hereditary Anemias Panel

Mendelics
Brazil
1183
  • C Sequence analysis of the entire coding region

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

Anemia, hypochromic microcytic, with iron overload: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
22
  • C Sequence analysis of the entire coding region

STEAP3 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 18 of 18

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.