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Results: 1 to 20 of 93

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

Carrier Screening - Comprehensive Panel (145 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
185145
  • D Deletion/duplication analysis
  • I Microsatellite instability testing (MSI)
  • X Mutation scanning of select exons
  • T Targeted variant analysis

Familial hypercholesterolemia Extended Panel

Health in Code
Spain
123
  • C Sequence analysis of the entire coding region

Dyslipidemias / Early atherosclerosis

Health in Code
Spain
184
  • C Sequence analysis of the entire coding region

Familial hypercholesterolemia Basic Panel

Health in Code
Spain
16
  • C Sequence analysis of the entire coding region

Mixed hyperlipidemias

Health in Code
Spain
1113
  • C Sequence analysis of the entire coding region

Familial hypercholesterolemia

Health in Code
Spain
12
  • C Sequence analysis of the entire coding region

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

CentoMetabolic MOx

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

APOA2 - NGS including CNV analysis

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

EPHX2 - NGS including CNV analysis

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

GHR - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

LDLR - NGS including CNV analysis

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

Carrier Screening Guidelines-Based Panel

Ambry Genetics
United States
199165
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • 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

CentoMito Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
406414
  • 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

Results: 1 to 20 of 93

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.