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Results: 1 to 20 of 194

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
66
  • E Enzyme assay

Acid Alpha-Glucosidase, Leukocytes

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

Glucotetrasaccharides, U

Mayo Clinic Laboratories Mayo Clinic
United States
11
  • A Analyte

Pompe Disease, BS

Mayo Clinic Laboratories Mayo Clinic
United States
12
  • A Analyte
  • E Enzyme assay

Pompe Disease 2ND Tier NBS, BS

Mayo Clinic Laboratories Mayo Clinic
United States
12
  • A Analyte
  • E Enzyme assay

Neuromuscular Disorders exome

Genetic Services Laboratory University of Chicago
United States
116137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NewbornGeneID

GeneID Lab - Advanced Molecular Diagnostics
United States
7361
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lysosomal storage disorder by enzyme study from amniotic fluid and CVS

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
2423
  • E Enzyme assay

Pompe Disease

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

Aortic diseases Panel

Health in Code
Spain
7135
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders Panel

Genetic Services Laboratory University of Chicago
United States
116137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 194

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.