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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
ABCD3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
Centogene AG - the Rare Disease Company Germany | 734 | 744 |
|
Centogene AG - the Rare Disease Company Germany | 406 | 414 |
|
Centogene AG - the Rare Disease Company Germany | 829 | 848 |
|
Invitae United States | 210 | 134 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Invitae Metabolic Newborn Screening Confirmation Panel Invitae United States | 201 | 158 |
|
Congenital Bile Acid Synthesis Defect-5 via the ABCD3 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
PreventionGenetics, part of Exact Sciences United States | 36 | 27 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 1 | 1 |
|
Peroxisomal disorders panel. NGS panel of 27 genes. Genologica Medica Spain | 45 | 27 |
|
Bile acid synthesis defect, congenital, 5: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 1 | 1 |
|
Peroxisomal Disorders Gene Panel Duzen Laboratories Duzen BBAGUAS Turkey | 39 | 30 |
|
ABCD3 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 1 | 1 |
|
Bile acid synthesis defect, congenital: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 6 | 6 |
|
Peroxisomal Disorders Sequencing Panel Dep. of Paediatrics and Inherited Metabolic Disorders General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague Czech Republic | 14 | 34 |
|
ABCD3 Gene Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States | 1 | 1 |
|
Bile Acid Defects Panel by next-generation sequencing (NGS) Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 5 | 5 |
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