Filters
Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
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 | 9 |
|
Hepatosplenomegaly Panel, Plasma Mayo Clinic Laboratories Mayo Clinic United States | 5 | 1 |
|
Hepatosplenomegaly Panel, Blood Spot Mayo Clinic Laboratories Mayo Clinic United States | 5 | 1 |
|
Acid Sphingomyelinase, Leukocytes Mayo Clinic Laboratories Mayo Clinic United States | 2 | 1 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 2 | 1 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 2 | 1 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 3 | 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 |
|
Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India | 3 | 1 |
|
Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India | 7 | 6 |
|
Cherry red spot and Neuroregression panel Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India | 7 | 6 |
|
Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India | 2 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 195 | 205 |
|
Centogene AG - the Rare Disease Company Germany | 316 | 314 |
|
SMPD1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
Centogene AG - the Rare Disease Company Germany | 734 | 744 |
|
Centogene AG - the Rare Disease Company Germany | 777 | 770 |
|
Centogene AG - the Rare Disease Company Germany | 669 | 688 |
|
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.