Hemolytic Anemia Panel
method(s): ◦ Sequencing, Next Gen
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA |
Red Blood Cell Enzymopathy Panel
method(s): ◦ Sequencing, Next Gen
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA |
devACT Clinical Management Panel, Developmental Delay, Intellectual Disability, Autism Spectrum Disorders
method(s): ◦ Sequencing, Next Gen
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA |
NT5C3A Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger)
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA |
NT5C3A Deletion/duplication analysis
method(s): ◦ Del/Dup (CNV)
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA |
Red Blood Cell Enzymopathy Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV)
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA |
Hemolytic Anemia Deletion/Duplication Analysis
method(s): ◦ Del/Dup (CNV)
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA |
Hereditary Hemolytic Anemia Sequencing, 28 Genes
method(s): ◦ Sequencing, Next Gen
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA |
RBC Enzymopathies (NGS panel of 14 genes)
method(s): ◦ Sequencing, Next Gen
CGC Genetics - Porto, Portugal |
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency (sequence analysis of NT5C3A gene)
method(s): ◦ Sequencing, Capillary (Sanger)
CGC Genetics - Porto, Portugal |
Comprehensive Cellular Energetics Defects (NextGen Sequencing Panel and Copy Number Analysis; 431 genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA |
NT5C3A
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV)
Fulgent Diagnostics - Temple City, CA, USA |
