Clinical and research tests for C5444012 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 37

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Cardiology Sequencing- Familial Hypercholesterolemia (15 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	15	15	X Mutation scanning of select exons
Cardiology Sequencing- Full Panel (174 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	122	174	X Mutation scanning of select exons
Hypertriglyceridemia Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	17	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Primary familial hypertriglyceridemias Health in Code Spain	1	12	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
APOA5 - 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
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
Pancreatitis Panel Centogene AG - the Rare Disease Company Germany	27	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Lipidemia Panel Invitae United States	33	25	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, susceptibility to, 145750, Autosomal dominant (LIPI 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
Hypertriglyceridemia, susceptibility to, 145750, Autosomal dominant (Hyperlipoproteinemia type 5) (APOA5 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
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
Dyslipidemia and early atherosclerosis panel. 84-gene NGS panel. Genologica Medica Spain	133	84	C Sequence analysis of the entire coding region
Hereditary pancreatitis panel. 9-gene NGS panel. Genologica Medica Spain	11	9	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
APOA5 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Familial Hypertriglyceridemia NGS Panel Fulgent Genetics United States	20	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MAJOR HYPERTRIGLYCERIDEMIA SANGER PANEL Laboratorio de Genetica Clinica SL Spain	1	6	C Sequence analysis of the entire coding region

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 37

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.