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Results: 1 to 20 of 54

Tests names and labsConditionsGenes, analytes, and microbesMethods

Winchester Syndrome (sequence analysis of MMP14 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Cardiology Sequencing- Aortopathy Comprehensive Panel (24 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
1724
  • 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

VAMP1 Gene Spastic ataxia type 1, autosomal dominant NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

APOC2 Gene Apolipoprotein C-II deficiency NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Hypertriglyceridemia Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1612
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Expanded Renal Disease Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
693388
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoMetabolic MOx

Centogene AG - the Rare Disease Company
Germany
195205
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

APOC2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • 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

Pancreatitis Panel

Centogene AG - the Rare Disease Company
Germany
2729
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Lipidemia Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
3325
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dyslipidemia panel

Genetic Services Laboratory University of Chicago
United States
1729
  • 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

Hyperlipoproteinemia, type Ib, 207750, Autosomal recessive (Familial apolipoprotein C-II deficiency) (APOC2 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

WES metabolic disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
1625
  • E Sequence analysis of select exons

FCSNext™

Ambry Genetics
United States
15
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CustomNext-Cardio®

Ambry Genetics
United States
236167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Cardiology Panel

PreventionGenetics, part of Exact Sciences
United States
224202
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 54

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.