Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Nephronophthisis-like nephropathy 1 (sequence analysis of XPNPEP3 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Carrier Screening - Comprehensive Panel (145 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States | 185 | 145 |
|
PYGM Gene Glycogen storage disease type 5 NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Rhabdo/Metabolic Myopathy Panel Mayo Clinic Laboratories Mayo Clinic United States | 2 | 83 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 1 | 216 |
|
Genetic Services Laboratory University of Chicago United States | 116 | 137 |
|
Genetic Services Laboratory University of Chicago United States | 116 | 137 |
|
Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis Variantyx, Inc. United States | 1 | 335 |
|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
Centogene AG - the Rare Disease Company Germany | 195 | 205 |
|
Centogene AG - the Rare Disease Company Germany | 316 | 314 |
|
PYGM - 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 | 669 | 688 |
|
Centogene AG - the Rare Disease Company Germany | 247 | 262 |
|
Centogene AG - the Rare Disease Company Germany | 325 | 316 |
|
Invitae Rhabdomyolysis and Metabolic Myopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 202 | 128 |
|
Labcorp Genetics (formerly Invitae) LabCorp United States | 173 | 119 |
|
Glycogen Storage Disease Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 1 | 28 |
|
Genome-Nilou Lab Iran | 110 | 146 |
|
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.