Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
CCHS PHOX2B Seq + Repeat Expansion Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States | 1 | 1 |
|
BOLA3 Gene Multiple mitochondrial dysfunctions syndrome type 2 NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 2 | 128 |
|
Comprehensive Epilepsy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 1 | 318 |
|
Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis Variantyx, Inc. United States | 1 | 335 |
|
Nuclear Mitochondrial Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 1 | 221 |
|
Combined mtDNA+Nuclear Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 12 | 221 |
|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
BOLA3 - 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 |
|
Centogene AG - the Rare Disease Company Germany | 669 | 688 |
|
Centogene AG - the Rare Disease Company Germany | 406 | 414 |
|
Ataxia / Spastic Paraplegia Comprehensive Panel Centogene AG - the Rare Disease Company Germany | 451 | 452 |
|
Ataxia / Spastic Paraplegia Panel Centogene AG - the Rare Disease Company Germany | 442 | 443 |
|
Centogene AG - the Rare Disease Company Germany | 829 | 848 |
|
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 971 | 680 |
|
Invitae Nuclear Mitochondrial Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 394 | 319 |
|
Invitae Pyruvate Metabolism and Related Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 40 | 38 |
|
Invitae Supplemental Metabolic Newborn Screening Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 253 | 189 |
|
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.