Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
COL2A1 Gene Otospondylomegaepiphyseal dysplasia NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
FBLN5 Gene Cutis laxa type 1A, autosomal recessive NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
FBLN5 Gene Cutis laxa type 2, autosomal dominant NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 1 | 211 |
|
Peripheral Neuropathy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 1 | 186 |
|
Motor and Sensory Neuropathy Panel Mayo Clinic Laboratories Mayo Clinic United States | 2 | 87 |
|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
FBLN5 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 4 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
Connective Tissue and Related Disorder Panel Centogene AG - the Rare Disease Company Germany | 75 | 76 |
|
Centogene AG - the Rare Disease Company Germany | 325 | 316 |
|
Centogene AG - the Rare Disease Company Germany | 99 | 101 |
|
Centogene AG - the Rare Disease Company Germany | 740 | 728 |
|
Centogene AG - the Rare Disease Company Germany | 157 | 151 |
|
Invitae Connective Tissue Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 195 | 92 |
|
Marfan Syndrome and Related Aortopathies Panel PreventionGenetics, part of Exact Sciences United States | 41 | 40 |
|
Cutis laxa Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 7 | 9 |
|
Cutis laxa Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 7 | 9 |
|
HNL Genomics Connective Tissue Gene Tests United States | 7 | 9 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
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.