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Results: 1 to 20 of 40

Tests names and labsConditionsGenes, analytes, and microbesMethods

Myasthenic syndrome fast channel congenital (NGS panel for 8 genes)

CGC Genetics Unilabs
Portugal
18
  • C Sequence analysis of the entire coding region

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
1612
  • 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

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

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

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

Dyslipidemia (WES based NGS panel of 25 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
125
  • C Sequence analysis of the entire coding region

Dislipidemias Panel

CGC Genetics Unilabs
Portugal
116
  • C Sequence analysis of the entire coding region

Neonatal Baby Cheek Screening Test

Mendelics
Brazil
1342
  • C Sequence analysis of the entire coding region

Pancreatitis Panel

Mendelics
Brazil
19
  • C Sequence analysis of the entire coding region

Treatable Disorders Panel

Mendelics
Brazil
1369
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 40

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.