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Results: 1 to 20 of 205

Tests names and labsConditionsGenes, analytes, and microbesMethods

Glycogen storage disease II, 232300, Autosomal recessive; GSD2 (Glycogen storage disease due to acid maltase deficiency) (Pompe Disease) (GAA gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Glycogen storage disease II, 232300, Autosomal recessive; GSD2 (Glycogen storage disease due to acid maltase deficiency) (Pompe Disease) (GAA 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

Glycogen storage disease II, 232300, Autosomal recessive; GSD2 (Glycogen storage disease due to acid maltase deficiency) (Pompe Disease) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Glycogen storage disease II, 232300, Autosomal recessive; GSD2 (Glycogen storage disease due to acid maltase deficiency) (Pompe Disease) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

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

Results: 1 to 20 of 205

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.