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Results: 1 to 20 of 24

Tests names and labsConditionsGenes, analytes, and microbesMethods

Cardiology Sequencing- Familial Hypercholesterolemia (15 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
1515
  • X Mutation scanning of select exons

Cardiology Sequencing- Full Panel (174 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
122174
  • X Mutation scanning of select exons

Hypertriglyceridemia Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1712
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

LMF1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Panel

Centogene AG - the Rare Disease Company
Germany
498498
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Plus Panel

Centogene AG - the Rare Disease Company
Germany
499499
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Diabetes and Obesity Panel

Centogene AG - the Rare Disease Company
Germany
247262
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Comprehensive Lipidemia Panel

Invitae
United States
3325
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Familial Chylomicronemia Panel

PreventionGenetics, part of Exact Sciences
United States
87
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lipase deficiency, combined, 246650, Autosomal recessive (LMF1 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Comprehensive Cardiology Panel

PreventionGenetics, part of Exact Sciences
United States
220196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cholestasis panel. NGS panel of 46 genes.

Genologica Medica
Spain
8846
  • C Sequence analysis of the entire coding region

Dyslipidemia and early atherosclerosis panel. 84-gene NGS panel.

Genologica Medica
Spain
13384
  • C Sequence analysis of the entire coding region

Hyperlipidemia panel. 18-gene NGS panel.

Genologica Medica
Spain
2518
  • C Sequence analysis of the entire coding region

LMF1

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

Familial Hypertriglyceridemia NGS Panel

Fulgent Genetics
United States
2015
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Major Hypertriglyceridemia, Panel Massive Sequencing (NGS) 7 Genes

Reference Laboratory Genetics
Spain
67
  • C Sequence analysis of the entire coding region

Hypertriglyceridemia

Asper Biogene Asper Biogene LLC
Estonia
86
  • C Sequence analysis of the entire coding region

MAJOR HYPERTRIGLYCERIDEMIA

Laboratorio de Genetica Clinica SL
Spain
56
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HYPERLIPOPROTEINEMIA TYPE 1

Laboratorio de Genetica Clinica SL
Spain
44
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 24

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.