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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
UDP-Glucuronosyl Transferase 1A1 (UGT1A1), Full Gene Sequencing Mayo Clinic Laboratories Mayo Clinic United States | 10 | 1 |
|
UGT1A1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 5 | 1 |
|
Invitae Crigler Najjar and Gilbert Syndrome Test Invitae United States | 5 | 1 |
|
Invitae United States | 210 | 134 |
|
Hereditary Hemolytic Anemia Cascade ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States | 24 | 31 |
|
Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics, part of Exact Sciences United States | 297 | 180 |
|
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 |
|
Crigler-Najjar Syndrome and Gilbert Syndrome via the UGT1A1 Gene PreventionGenetics, part of Exact Sciences United States | 3 | 1 |
|
Cholestasis panel. NGS panel of 46 genes. Genologica Medica Spain | 88 | 46 |
|
Detection of germline polymorphism UGT1A1 * 28 Genologica Medica Spain | 5 | 1 |
|
Crigler-Najjar syndrome: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 2 | 1 |
|
Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 104 | 73 |
|
Hyperbilirubinemia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 6 | 4 |
|
Intrahepatic Cholestasis NGS Panel Fulgent Genetics United States | 15 | 5 |
|
Crigler-Najjar Syndrome (UGT1A1 Single Gene Test) Fulgent Genetics United States | 5 | 1 |
|
Gilbert Syndrome (UGT1A1 Single Gene Test) Fulgent Genetics United States | 5 | 1 |
|
Beacon Expanded Female Carrier Screening Plus Panel Fulgent Genetics United States | 716 | 335 |
|
Beacon Expanded Male Carrier Screening Panel Fulgent Genetics United States | 636 | 298 |
|
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.