Clinical and research tests for 2819 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
GPD1 Gene Hypertriglyceridemia, transient infantile NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Hypertriglyceridemia Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	16	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GPD1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Diabetes and Obesity Panel Centogene AG - the Rare Disease Company Germany	247	262	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Lipidemia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	33	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dyslipidemia panel Genetic Services Laboratory University of Chicago United States	17	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Familial Chylomicronemia Panel PreventionGenetics, part of Exact Sciences United States	8	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypertriglyceridemia, transient infantile, 614480, Autosomal recessive; HTGTI (Transient infantile hypertriglyceridemia and hepatosteatosis) (GPD1 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
WES metabolic disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	625	E Sequence analysis of select exons
Metabolic Diseases Panel CGC Genetics Unilabs Portugal	1	837	C Sequence analysis of the entire coding region
Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal	10	930	C Sequence analysis of the entire coding region
Dyslipidemia (WES based NGS panel of 25 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	25	C Sequence analysis of the entire coding region
Dislipidemias Panel CGC Genetics Unilabs Portugal	1	16	C Sequence analysis of the entire coding region
Hypertriglyceridemia, transient infantile (sequence analysis of GPD1 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES) Laboratorio de Genetica Clinica SL Spain	1	1372	E Sequence analysis of select exons
Dyslipidemia and early atherosclerosis panel. 84-gene NGS panel. Genologica Medica Spain	133	84	C Sequence analysis of the entire coding region
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
GPD1 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
NewbornDx Advanced Sequencing Evaluation Athena Diagnostics United States	1	1722	C Sequence analysis of the entire coding region
Lipid Metabolism Deficiency NGS Panel Fulgent Genetics United States	80	71	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.