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Results: 1 to 13 of 13

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

Invitae
United States
5728
  • D Deletion/duplication analysis

Invitae Hereditary Hemolytic Anemia Panel

Invitae
United States
7439
  • D Deletion/duplication analysis

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

Erythrocytosis NGS Panel

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

SPTB Gene Sequencing and Deletion/Duplication Analysis

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
21
  • D Deletion/duplication analysis
  • 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

Erythrocyte membrane disorder panel

Genome Diagnostics Laboratory University Medical Center Utrecht
Netherlands
167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 13 of 13

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.