Clinical and research tests for C1863224 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 15 of 15

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
PKLR - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Red Blood Cell Membrane Disorders and Enzymopathies Panel Invitae United States	57	28	D Deletion/duplication analysis
Invitae Hereditary Hemolytic Anemia Panel Invitae United States	74	39	D Deletion/duplication analysis
Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States	291	148	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Adenosine triphosphate, elevated, of erythrocytes, 102900, Autosomal dominant (Hemolytic anemia due to red cell pyruvate kinase deficiency) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Adenosine triphosphate, elevated, of erythrocytes, 102900, Autosomal dominant (Hemolytic anemia due to red cell pyruvate kinase deficiency) (PKLR gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Adenosine triphosphate, elevated, of erythrocytes: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
Pyruvate Kinase Deficiency (PKLR Single Gene Test) Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Erythrocytosis NGS Panel Fulgent Genetics United States	61	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Single gene testing PKLR CeGaT GmbH Germany	2	1	C Sequence analysis of the entire coding region
PKLR Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	2	1	D Deletion/duplication analysis
PKLR Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nuclear-Mito NGS Panel Fulgent Genetics United States	1103	676	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PKLR Sequencing Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	2	1	C Sequence analysis of the entire coding region T Targeted variant analysis

Results: 1 to 15 of 15

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