Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
BSCL2 Gene Lipodystrophy generalized type 2 NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
BSCL2 Gene Neuropathy, distal hereditary motor, type 5A NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
BSCL2 Gene Encephalopathy, progressive, with or without lipodystrophy NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 1 | 211 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 2 | 128 |
|
Peripheral Neuropathy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 1 | 186 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 23 | 12 |
|
Motor and Sensory Neuropathy Panel Mayo Clinic Laboratories Mayo Clinic United States | 2 | 87 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 8 | 26 |
|
Detection of the N88S and S90L mutations in exon 3 of the BSCL2 gene Neurogenetics Cyprus Institute of Neurology and Genetics Cyprus | 1 | 1 |
|
BSCL2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 4 | 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 | 325 | 316 |
|
Amyotrophic Lateral Sclerosis (ALS) / Dementia Panel Centogene AG - the Rare Disease Company Germany | 64 | 66 |
|
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 Comprehensive Neurometabolic Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 351 | 249 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 7 | 112 |
|
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.