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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Panel of lysosomal disorders and mucopolysaccharidosis. NGS panel of 102 genes. Genologica Medica Spain | 175 | 102 |
|
Cholestasis panel. NGS panel of 46 genes. Genologica Medica Spain | 88 | 46 |
|
Peroxisomal disorders panel. NGS panel of 27 genes. Genologica Medica Spain | 45 | 27 |
|
Retinal dystrophy panel. 260 gene NGS panel. Genologica Medica Spain | 420 | 257 |
|
Peroxisomal Disorder Panel, Sequencing ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States | 17 | 26 |
|
Peroxisomal Disorders Gene Panel Duzen Laboratories Duzen BBAGUAS Turkey | 39 | 30 |
|
PEX5 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 3 | 1 |
|
Rhizomelic chondrodysplasia punctata: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 4 | 4 |
|
Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes Reference Laboratory Genetics Spain | 109 | 78 |
|
Asper Biogene Asper Biogene LLC Estonia | 318 | 252 |
|
Rhizomelic Chondrodysplasia Punctatas Braverman Laboratory Research Institute of the McGill University Health Center Canada | 5 | 6 |
|
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