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Results: 1 to 20 of 191

Tests names and labsConditionsGenes, analytes, and microbesMethods

Cardiology Sequencing- Arrhythmia Comprehensive Panel (134 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
88134
  • 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

Lysosomal diseases panel

Lysosomal Diseases Testing Laboratory Thomas Jefferson University
United States
5818
  • E Enzyme assay

Lysosomal/Peroxisomal D/O Scrn, BS

Mayo Clinic Laboratories Mayo Clinic
United States
1011
  • A Analyte

Lysosomal (Six) Panel, WBC

Mayo Clinic Laboratories Mayo Clinic
United States
65
  • E Enzyme assay

Ceramide Trihexosides and Sulfatides, Random, Urine

Mayo Clinic Laboratories Mayo Clinic
United States
52
  • A Analyte

Alpha-Galactosidase, S

Mayo Clinic Laboratories Mayo Clinic
United States
10
  • E Enzyme assay

Alpha-Galactosidase, Leukocytes

Mayo Clinic Laboratories Mayo Clinic
United States
10
  • E Enzyme assay

Alpha-Galactosidase, BS

Mayo Clinic Laboratories Mayo Clinic
United States
11
  • E Enzyme assay

Cardiomyopathy and Arrhythmia Panel

Mayo Clinic Laboratories Mayo Clinic
United States
73105
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Cardiomyopathy Panel

Mayo Clinic Laboratories Mayo Clinic
United States
6883
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypertrophic Cardiomyopathy Panel

Mayo Clinic Laboratories Mayo Clinic
United States
4448
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dilated Cardiomyopathy/LVNC Panel

Mayo Clinic Laboratories Mayo Clinic
United States
5263
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cerebrovascular Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
2330
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lyso-GB3, S

Mayo Clinic Laboratories Mayo Clinic
United States
11
  • A Analyte

Sensory Neuropathy Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
2525
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Fabry disease (GLA gene)

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lysosomal storage disorder by enzyme study from amniotic fluid and CVS

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
2422
  • E Enzyme assay

Fabry's Disease

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
11
  • E Enzyme assay

Results: 1 to 20 of 191

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.