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Results: 1 to 20 of 23 (representing 14 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies

Mayo Clinic Genetic Testing Laboratories Mayo Clinic
United States
4140
  • C Sequence analysis of the entire coding region

Pyruvate Kinase Liver and Red Blood Cell (PKLR) Full Gene Sequencing and Large Deletion Detection

Mayo Clinic Genetic Testing Laboratories Mayo Clinic
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pyruvate kinase deficiency with hemolytic anemia

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • 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
3530
  • C Sequence analysis of the entire coding region

Pyruvate Kinase Deficiency with Hemolytic Anemia via the PKLR Gene

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

nucSEEKĀ® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pyruvate Kinase Deficiency (PKLR) Targeted Testing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
11
  • T Targeted variant analysis

Red Blood Cell Enzymopathies Deletion/Duplication Panel

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
1414
  • D Deletion/duplication analysis

Hemolytic Anemia Deletion/Duplication Panel

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
3232
  • D Deletion/duplication analysis

Single gene testing PKLR

CeGaT GmbH
Germany
21
  • C Sequence analysis of the entire coding region

NGS Non-immune Hydrops Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
8787
  • C Sequence analysis of the entire coding region

Hereditary Hemolytic Anemia Sequencing, 28 Genes

ARUP Laboratories, Molecular Genetics and Genomics
United States
2128
  • C Sequence analysis of the entire coding region

PKLR Gene Sequencing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
21
  • C Sequence analysis of the entire coding region

PKLR Deletion/duplication analysis

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • D Deletion/duplication analysis

Pyruvate kinase deficiency (sequence analysis of PKLR gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

PKLR

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nuclear-Mito NGS Panel

Fulgent Genetics
United States
601504
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PKLR Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 23

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.

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