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Glycogen storage disease, type II
Synonyms: ACID ALPHA-GLUCOSIDASE DEFICIENCY, INFANTILE-ONSET; ACID MALTASE DEFICIENCY, INFANTILE-ONSET; Acid maltase deficiency disease; Aglucosidase alfa; CARDIOMEGALIA GLYCOGENICA DIFFUSA; Deficiency of alpha-glucosidase; Deficiency of lysosomal alpha-glucosidase; GAA DEFICIENCY, INFANTILE-ONSET; GLYCOGEN STORAGE DISEASE II, INFANTILE-ONSET; GLYCOGENOSIS, GENERALIZED, CARDIAC FORM; GSD II; Glucosidase acid-1,4-alpha deficiency; Glycogen Storage Disease Type II (Pompe Disease); Glycogen storage disease type 2; POMPE DISEASE, INFANTILE-ONSET
Gene: GAA

Labs matching your search

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41 labs with tests matching your search
Lab name Tests matching your search
ARUP Laboratories, Molecular Genetics and Genomics United States3
Amsterdam UMC, Location AMC Netherlands1
Baylor Genetics United States7
Bioarray Spain1
Blueprint Genetics Finland1
CENTOGENE GmbH and LLC - Guiding Precision Medicine Germany16
CNH Molecular Diagnostics Laboratory United States2
CeGaT GmbH Germany2
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory United States5
DDC Clinic Molecular Diagnostics Laboratory United States1
Dhiti Omics Technologies Private Ltd India1
Dubai Health Genomic Medicine Center United Arab Emirates1
Duzen Laboratories Turkey4
Fulgent Genetics United States20
GeneID Lab - Advanced Molecular Diagnostics United States1
Genesys Diagnostics United States3
Genetic Services Laboratory United States2
Genetiks Genetic Diagnosis Center Turkey1
Greenwood Genetic Center Diagnostic Laboratories United States5
HNL Genomics Connective Tissue Gene Tests United States9
Institute of Human Genetics Austria1
Institute of Human Genetics India2
Integrated Genetics Westborough United States9
Intergen Genetics and Rare Diseases Diagnosis Center Turkey4
Johns Hopkins Genomics DNA Diagnostic Laboratory United States1
Labcorp Genetics (formerly Invitae) United States15
Labor Dr. Wisplinghoff Germany1
Laboratory of Human Genetics Poland1
Lysosomal Diseases Testing Laboratory United States2
MGZ Medical Genetics Center Germany1
Mayo Clinic Laboratories United States11
Molecular Diagnostics Laboratory South Korea1
Molecular Vision Laboratory United States3
Myriad Genetics, Inc. United States1
Natera, Inc. United States9
NxGen MDx United States2
Praxis fuer Humangenetik Wien Austria1
PreventionGenetics, part of Exact Sciences United States11
Quantitative Genomic Medicine Laboratories, SL Spain1
Revvity Omics United States1
Translational Metabolic Laboratory Netherlands1
Results:
165 genetic tests from 41 labs with tests matching your search
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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
  • E Enzyme assay

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
2422
  • E Enzyme assay

Pompe Disease

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

Neuromuscular Disorders Panel

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

Genetic Awareness Panel

DDC Clinic Molecular Diagnostics Laboratory, DDC Clinic, Center for Special Needs Children
United States
195187
  • T Targeted variant analysis
165 tests from 41 labs
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❮Page 1 of 9❯
Cardiology Sequencing- Arrhythmia Comprehensive Panel (134 Genes) by Genesys Diagnostics, Genesys Diagnostics, Inc.
88 conditions, 134 genes
Cardiology Sequencing- Full Panel (174 Genes) by Genesys Diagnostics, Genesys Diagnostics, Inc.
122 conditions, 174 genes
Carrier Screening - Comprehensive Panel (145 Genes) by Genesys Diagnostics, Genesys Diagnostics, Inc.
185 conditions, 145 genes
Lysosomal diseases panel by Lysosomal Diseases Testing Laboratory, Thomas Jefferson University
58 conditions, 18 genes
Lysosomal/Peroxisomal D/O Scrn, BS by Mayo Clinic Laboratories, Mayo Clinic
10 conditions, 11 genes
Lysosomal (Six) Panel, WBC by Mayo Clinic Laboratories, Mayo Clinic
6 conditions, 6 genes
Acid Alpha-Glucosidase, Leukocytes by Mayo Clinic Laboratories, Mayo Clinic
1 condition, 1 gene
Cardiomyopathy and Arrhythmia Panel by Mayo Clinic Laboratories, Mayo Clinic
73 conditions, 105 genes
Comprehensive Cardiomyopathy Panel by Mayo Clinic Laboratories, Mayo Clinic
68 conditions, 83 genes
Hypertrophic Cardiomyopathy Panel by Mayo Clinic Laboratories, Mayo Clinic
44 conditions, 48 genes
Dilated Cardiomyopathy/LVNC Panel by Mayo Clinic Laboratories, Mayo Clinic
52 conditions, 63 genes
Glucotetrasaccharides, U by Mayo Clinic Laboratories, Mayo Clinic
1 condition, 1 gene
Pompe Disease, BS by Mayo Clinic Laboratories, Mayo Clinic
1 condition, 2 genes
Pompe Disease 2ND Tier NBS, BS by Mayo Clinic Laboratories, Mayo Clinic
1 condition, 2 genes
Neuromuscular Disorders exome by Genetic Services Laboratory, University of Chicago
116 conditions, 137 genes
NewbornGeneID by GeneID Lab - Advanced Molecular Diagnostics
73 conditions, 61 genes
Lysosomal storage disorder by enzyme study from amniotic fluid and CVS by Institute of Human Genetics, Foundation for Research in Genetics and Endocrinology
24 conditions, 22 genes
Pompe Disease by Institute of Human Genetics, Foundation for Research in Genetics and Endocrinology
1 condition, 1 gene
Neuromuscular Disorders Panel by Genetic Services Laboratory, University of Chicago
116 conditions, 137 genes
Genetic Awareness Panel by DDC Clinic Molecular Diagnostics Laboratory, DDC Clinic, Center for Special Needs Children
195 conditions, 187 genes

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.