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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
AKR1D1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 498 | 498 |
|
Centogene AG - the Rare Disease Company Germany | 499 | 499 |
|
Centogene AG - the Rare Disease Company Germany | 829 | 848 |
|
Invitae United States | 210 | 134 |
|
PreventionGenetics, part of Exact Sciences United States | 130 | 69 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Congenital Bile Acid Synthesis Defect Type 2 via the AKR1D1 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
Cholestasis panel. NGS panel of 46 genes. Genologica Medica Spain | 88 | 46 |
|
AKR1D1 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 1 | 1 |
|
Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 104 | 73 |
|
AKR1D1 Gene Sequencing by Massively Parallel Sequencing (BCM-NGSSM) Baylor Genetics United States | 1 | 1 |
|
AKR1D1 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States | 1 | 1 |
|
AKR1D1 Sequence Analysis (Prenatal Sequence Analysis) Baylor Genetics United States | 1 | 1 |
|
Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates | 23 | 23 |
|
Bile acid synthesis defect, congenital: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 6 | 6 |
|
Congenital Bile Acid Synthesis Defect Type 2 (AKR1D1 Single Gene Test) Fulgent Genetics United States | 1 | 1 |
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States | 27 | 25 |
|
AKR1D1 Gene Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States | 1 | 1 |
|
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