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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital United States | 4 | 1 |
|
Carrier Screening - Comprehensive Panel (145 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States | 185 | 145 |
|
Hydrops fetalis panel for lysosomal disorders Lysosomal Diseases Testing Laboratory Thomas Jefferson University United States | 23 | 7 |
|
Lysosomal Diseases Testing Laboratory Thomas Jefferson University United States | 58 | 18 |
|
Lysosomal/Peroxisomal D/O Scrn, BS Mayo Clinic Laboratories Mayo Clinic United States | 10 | 11 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 6 | 6 |
|
Alpha-L-Iduronidase, Leukocytes Mayo Clinic Laboratories Mayo Clinic United States | 1 | 1 |
|
Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India | 4 | 1 |
|
Lysosomal Storage Disease Panel Molecular Genetics Laboratory London Health Sciences Centre Canada | 77 | 50 |
|
Hurler Syndrome, Full Gene Analysis Mayo Clinic Laboratories Mayo Clinic United States | 1 | 1 |
|
Mucopolysaccharidosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 17 | 14 |
|
Mucopolysaccharidosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 17 | 14 |
|
Mucopolysaccharidosis NGS panel HNL Genomics Connective Tissue Gene Tests United States | 17 | 14 |
|
Myriad Genetics, Inc. United States | 1 | 1 |
|
Mucopolysaccharidosis NGS panel HNL Genomics Connective Tissue Gene Tests United States | 17 | 14 |
|
Mucopolysaccharidosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 17 | 14 |
|
Mucopolysaccharidosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 17 | 14 |
|
Quantitative Genomic Medicine Laboratories, SL Spain | 328 | 300 |
|
Integrated Genetics Westborough LabCorp United States | 330 | 746 |
|
Targeted Variant, Fetal Analysis Integrated Genetics Westborough LabCorp United States | 292 | 746 |
|
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.