Clinical and research tests for C0270210 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
NGS Panel for Hereditary Hemolytic Anemias due to Membranopathies (spherocytosis, elliptocytosis, pyropoycylocytosis, ovalocytosis, stomatocytosis) and Gilbert syndrome as a modifier factor BloodGenetics Spain	7	17	C Sequence analysis of the entire coding region
UGT1A1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Crigler Najjar and Gilbert Syndrome Test Invitae United States	5	1	D Deletion/duplication analysis
Invitae Cholestasis Panel Invitae United States	210	134	D Deletion/duplication analysis
Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics, part of Exact Sciences United States	297	180	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cholestasis Panel PreventionGenetics, part of Exact Sciences United States	130	69	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hyperbilirubinemia, familial transient neonatal, 237900, Autosomal recessive; HBLRTFN (Transient familial neonatal hyperbilirubinemia) (UGT1A1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Cholestasis panel. NGS panel of 46 genes. Genologica Medica Spain	88	46	C Sequence analysis of the entire coding region
Detection of germline polymorphism UGT1A1 * 28 Genologica Medica Spain	5	1	C Sequence analysis of the entire coding region
Cholestasis NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	104	73	C Sequence analysis of the entire coding region
Hyperbilirubinemia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	6	4	C Sequence analysis of the entire coding region
Intrahepatic Cholestasis NGS Panel Fulgent Genetics United States	15	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Crigler-Najjar Syndrome (UGT1A1 Single Gene Test) Fulgent Genetics United States	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Gilbert Syndrome (UGT1A1 Single Gene Test) Fulgent Genetics United States	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Female Carrier Screening Plus Panel Fulgent Genetics United States	716	335	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Male Carrier Screening Panel Fulgent Genetics United States	636	298	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Male Carrier Screening Plus Panel Fulgent Genetics United States	661	306	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Female Carrier Screening Panel Fulgent Genetics United States	690	326	D Deletion/duplication analysis C Sequence analysis of the entire coding region
UGT1A7 Single Gene Fulgent Genetics United States	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
UGT1A10 Single Gene Fulgent Genetics United States	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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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.