Clinical and research tests for 3990 - 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
Dyslipidemias / Early atherosclerosis Health in Code Spain	1	84	C Sequence analysis of the entire coding region
Cardiovascular Diseases_General Panel Health in Code Spain	1	380	C Sequence analysis of the entire coding region
GenepoweRx_Diabetes Care GenepoweRx Uppaluri K&H Personalized Medicine Clinic India	17	41	D Deletion/duplication analysis H Detection of homozygosity S Mutation scanning of the entire coding region T Targeted variant analysis
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
LIPC - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	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
Hypercholesterolemia panel Genetic Services Laboratory University of Chicago United States	15	10	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
Hepatic lipase deficiency, 614025, Autosomal recessive (Hyperlipidemia due to hepatic triglyceride lipase deficiency) (LIPC 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
Diabetes mellitus, noninsulin-dependent, 125853, Autosomal dominant (LIPC 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
[High density lipoprotein cholesterol level QTL 12], 612797 (LIPC 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
Diabetes Panel CGC Genetics Unilabs Portugal	1	76	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
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
Familial Dyslipidemia Sequencing and Del/Dup Panel GeneDx United States	2	28	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.