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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Mayo Clinic Laboratories Mayo Clinic United States | 1 | 1 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 1 | 1 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 10 | 10 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 11 | 10 |
|
Lysosomal Diseases Testing Laboratory Thomas Jefferson University United States | 58 | 18 |
|
Urine GAG study for MPS (Qualitative and Quantitative) Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India | 8 | 1 |
|
Lysosomal storage disorder by enzyme study from amniotic fluid and CVS Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India | 24 | 22 |
|
Mucopolysaccharide enzyme panel Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India | 8 | 8 |
|
Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India | 1 | 1 |
|
Lysosomal Storage Disease Panel Molecular Genetics Laboratory London Health Sciences Centre Canada | 77 | 50 |
|
ARSB - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
Centogene AG - the Rare Disease Company Germany | 734 | 744 |
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Centogene AG - the Rare Disease Company Germany | 669 | 688 |
|
Centogene AG - the Rare Disease Company Germany | 829 | 848 |
|
Invitae Comprehensive Deafness Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 405 | 219 |
|
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 624 | 349 |
|
Mucopolysaccharidosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 17 | 14 |
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Mucopolysaccharidosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 17 | 14 |
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Mucopolysaccharidosis NGS panel HNL Genomics Connective Tissue Gene Tests United States | 17 | 14 |
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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.