Clinical and research tests for C0043208 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hypertriglyceridemia Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	17	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypercholesterolemia Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	10	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lysosomal Storage Disease Panel Molecular Genetics Laboratory London Health Sciences Centre Canada	77	50	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoMetabolic MOx Centogene AG - the Rare Disease Company Germany	195	221	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoXome MOx (Whole Exome Sequencing) Centogene AG - the Rare Disease Company Germany	13	19	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region U Uniparental disomy study (UPD)
CentoLSD Centogene AG - the Rare Disease Company Germany	12	18	A Analyte
CentoLSD MOx Centogene AG - the Rare Disease Company Germany	12	36	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoSphingo Centogene AG - the Rare Disease Company Germany	10	10	A Analyte
CentoSphingo MOx Centogene AG - the Rare Disease Company Germany	10	20	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lysosomal Acid Lipase Deficiency Myriad Genetics, Inc. United States	2	1	C Sequence analysis of the entire coding region
Wolman disease Comprehensive test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Wolman disease Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Wolman disease Sequencing test HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	328	300	C Sequence analysis of the entire coding region
acid lipase deficiency Lysosomal Diseases Testing Laboratory Thomas Jefferson University United States	1	1	E Enzyme assay
Wolman LIPA gene sequencing Duzen Laboratories Duzen BBAGUAS Turkey	2	1	C Sequence analysis of the entire coding region
Wolman Disease Genetiks Genetic Diagnosis Center Genetic Diseases Evaluation Center Turkey	1	1	C Sequence analysis of the entire coding region
Horizon 274 Male Natera, Inc. United States	244	254	E Sequence analysis of select exons C Sequence analysis of the entire coding region
Lysosomal Acid Lipase Activity, Blood Quest Diagnostics Nichols Institute San Juan Capistrano United States	3	1	E Enzyme assay
Cholestasis NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	104	73	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.