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Results: 1 to 20 of 86

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies

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

MLPA (CFH-CFHR5) a la carte

Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics
United States
76
  • D Deletion/duplication analysis

Red Blood Cell Enzyme Panel, Next-Generation Sequencing

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

Glucose-6-Phosphate Dehydrogenase (G6PD) Full Gene Sequencing

Mayo Clinic Laboratories Mayo Clinic
United States
91
  • C Sequence analysis of the entire coding region

G6PD Deficiency

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
11
  • T Targeted variant analysis

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

Genetic Renal Panel v8

Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics
United States
2117
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HemeZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
10796
  • C Sequence analysis of the entire coding region

CentoMetabolic MOx

Centogene AG - the Rare Disease Company
Germany
195221
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoScreen

Centogene AG - the Rare Disease Company
Germany
316314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

G6PD - Sanger sequencing

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

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoImmuno Panel

Centogene AG - the Rare Disease Company
Germany
323329
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Atypical Hemolytic Uremic Syndrome (aHUS) Panel

Centogene AG - the Rare Disease Company
Germany
2325
  • D Deletion/duplication analysis
  • 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

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
754562
  • D Deletion/duplication analysis

Invitae Red Blood Cell Membrane Disorders and Enzymopathies Panel

Invitae
United States
5728
  • D Deletion/duplication analysis

Results: 1 to 20 of 86

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.