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Results: 1 to 20 of 53

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

Invitae eMERGE Panel

Invitae
United States
5916
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GenepoweRx_Cardiac Care

GenepoweRx Uppaluri K&H Personalized Medicine Clinic
India
63102
  • D Deletion/duplication analysis
  • H Detection of homozygosity
  • S Mutation scanning of the entire coding region
  • T Targeted variant analysis

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

CentoMetabolic MOx

Centogene AG - the Rare Disease Company
Germany
195221
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

APOB - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Invitae eMERGE Panel

Invitae
United States
5916
  • D Deletion/duplication analysis

Invitae Comprehensive Lipidemia Panel

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

Hypercholesterolemia, due to ligand-defective apo B, 144010, Autosomal dominant (APOB 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

Congenital Diarrhea and Enteropathies Panel

PreventionGenetics, part of Exact Sciences
United States
241157
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Genetic Health Screen

Invitae
United States
409164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cardio Screen

Invitae
United States
20881
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae 78 Gene Actionable Disorders Panel

Invitae
United States
22075
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae First Tier Population Screen

Invitae
United States
1011
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FHNext®

Ambry Genetics
United States
54
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Familial Hypercholesterolemia Panel

PreventionGenetics, part of Exact Sciences
United States
44
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 53

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.