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Results: 1 to 20 of 35

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hemolytic anemia due to hexokinase deficiency, 235700, Autosomal recessive (Non-spherocytic hemolytic anemia due to hexokinase deficiency) (HK1 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

Hemolytic anemia due to hexokinase deficiency, 235700, Autosomal recessive (Non-spherocytic hemolytic anemia due to hexokinase deficiency) (HK1 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 Comprehensive Sequencing, Varies

Mayo Clinic Laboratories Mayo Clinic
United States
3940
  • C Sequence analysis of the entire coding region

Red Blood Cell Enzyme Panel, Next-Generation Sequencing

Mayo Clinic Laboratories Mayo Clinic
United States
1917
  • C Sequence analysis of the entire coding region

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

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

Bone Marrow Failure / Anemia Panel

Centogene AG - the Rare Disease Company
Germany
212212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
971680
  • D Deletion/duplication analysis

Invitae Red Blood Cell Membrane Disorders and Enzymopathies Panel

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

Invitae Hypoglycemia Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
173119
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Hereditary Hemolytic Anemia Panel

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

Hereditary Hemolytic Anemia Cascade

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
2431
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (Non-spherocytic hemolytic anemia due to hexokinase deficiency) (HK1 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

Invitae Inherited Retinal Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
486293
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MVL Vision Panel

Molecular Vision Laboratory
United States
342268
  • C Sequence analysis of the entire coding region

Retinitis pigmentosa panel

Genologica Medica
Spain
164108
  • C Sequence analysis of the entire coding region

Retinal dystrophy panel. 260 gene NGS panel.

Genologica Medica
Spain
420257
  • C Sequence analysis of the entire coding region

Retinopathy and Optic Atrophy NGS Panel

Fulgent Genetics
United States
563241
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 35

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.