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Results: 1 to 10 of 10

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

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 Membranopathies (spherocytosis, elliptocytosis, pyropoycylocytosis, ovalocytosis, stomatocytosis) and Gilbert syndrome as a modifier factor

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

RHAG - 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
7739
  • D Deletion/duplication analysis

Rh-mod syndrome (Overhydrated hereditary stomatocytosis) (RHAG 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

Overhydrated hereditary stomatocytosis, 185000, Autosomal dominant; OHST (Overhydrated hereditary stomatocytosis) (RHAG 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

Overhydrated hereditary stomatocytosis, 185000, Autosomal dominant; OHST (Overhydrated hereditary stomatocytosis) (RHAG 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

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

Results: 1 to 10 of 10

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