Clinical and research tests for C1969115 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
ABCG8 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication analysis
Invitae Red Blood Cell Membrane Disorders and Enzymopathies Panel Invitae United States	57	28	D Deletion/duplication analysis
Invitae Cholestasis Panel Invitae United States	210	134	D Deletion/duplication analysis
Invitae Hereditary Hemolytic Anemia Panel Invitae United States	74	39	D Deletion/duplication analysis
Invitae Comprehensive Lipidemia Panel Invitae United States	33	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Gallbladder disease 4, 611465 (ABCG8 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
Dyslipidemia and early atherosclerosis panel. 84-gene NGS panel. Genologica Medica Spain	133	84	C Sequence analysis of the entire coding region
Familial hypercholesterolemia panel. 16-gene NGS panel. Genologica Medica Spain	20	16	C Sequence analysis of the entire coding region
Thrombocytopenia panel. 34-gene NGS panel. Genologica Medica Spain	53	34	C Sequence analysis of the entire coding region
Hyperlipidemia panel. 18-gene NGS panel. Genologica Medica Spain	25	18	C Sequence analysis of the entire coding region
Bleeding disorder / coagulopathy panel. NGS panel of 62 genes. Genologica Medica Spain	96	62	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
ABCG8 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Gallbladder disease: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	2	C Sequence analysis of the entire coding region
Hyperlipidemia NGS Panel Fulgent Genetics United States	19	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Thrombosis, Platelet Disorder, and Coagulation Deficiency NGS Panel Fulgent Genetics United States	146	82	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Liver Diseases 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	71	72	C Sequence analysis of the entire coding region T Targeted variant analysis
ABCG8 Gene Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	2	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.