Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Neuronal Ceroid-Lipofuscinoses Panel Genetic Services Laboratory University of Chicago United States | 11 | 13 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 3 | 2 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 2 | 2 |
|
Lysosomal storage disorder by enzyme study from amniotic fluid and CVS Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India | 24 | 23 |
|
Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India | 2 | 2 |
|
Lysosomal Storage Disease Panel Molecular Genetics Laboratory London Health Sciences Centre Canada | 77 | 50 |
|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
TPP1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
|
Invitae Neurodevelopmental Disorders Panel Invitae United States | 404 | 241 |
|
Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences United States | 242 | 146 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Invitae Inherited Retinal Disorders Panel Invitae United States | 486 | 293 |
|
Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
|
TPP1-Related Neuronal Ceroid Lipofuscinosis Myriad Genetics, Inc. United States | 1 | 1 |
|
Molecular Vision Laboratory United States | 342 | 268 |
|
Batten Disease - NCL1 and NCL2 Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India | 2 | 2 |
|
Quantitative Genomic Medicine Laboratories, SL Spain | 328 | 300 |
|
Invitae Neuronal Ceroid Lipofuscinoses Panel Invitae United States | 15 | 10 |
|
Early Infantile Epileptic Encephalopathy Panel PreventionGenetics, part of Exact Sciences United States | 144 | 124 |
|
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.