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Results: 1 to 20 of 24

Tests names and labsConditionsGenes, analytes, and microbesMethods

Spherocytosis, type 2, 616649, Autosomal dominant; SPH2 (Hereditary spherocytosis) (SPTB 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 Hemolytic Anemia Comprehensive Sequencing, Varies

Mayo Clinic Laboratories Mayo Clinic
United States
3940
  • 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

SPTB - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Red Blood Cell Membrane Disorders and Enzymopathies Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
5728
  • D Deletion/duplication analysis

Invitae Hereditary Hemolytic Anemia Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
7439
  • D Deletion/duplication analysis

Anemia, neonatal hemolytic, fatal and near-fatal (Hereditary spherocytosis) (SPTB 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

Anemia, neonatal hemolytic, fatal and near-fatal (Hereditary spherocytosis) (SPTB gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Elliptocytosis-3 (Hereditary spherocytosis) (SPTB 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 Hemolytic Anemia Panel

PreventionGenetics, part of Exact Sciences
United States
4434
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Spherocytosis/Elliptocytosis via the SPTB Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Spherocytosis/Elliptocytosis Panel

PreventionGenetics, part of Exact Sciences
United States
86
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Spherocytosis Panel, Hereditary

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
196
  • 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

Hemolytic Anemia 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
3334
  • E Sequence analysis of select exons

Hereditary spherocytosis type 2

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

SPTB Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
31
  • D Deletion/duplication analysis

SPTB Single Gene

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

Hereditary Spherocytosis NGS Panel

Fulgent Genetics
United States
105
  • 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 24

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.