Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Centogene AG - the Rare Disease Company Germany | 1 | 37 |
|
Genetic Services Laboratory University of Chicago United States | 1 | 1 |
|
Schaaf-yang syndrome testing (MAGEL2) Genetic Services Laboratory University of Chicago United States | 2 | 1 |
|
Oculodentodigital dysplasia testing (GJA1) Genetic Services Laboratory University of Chicago United States | 1 | 1 |
|
Marshall-smith syndrome testing (NFIX) Genetic Services Laboratory University of Chicago United States | 2 | 1 |
|
IMAGe syndrome testing (CDKN1C) Genetic Services Laboratory University of Chicago United States | 2 | 1 |
|
Genetic Services Laboratory University of Chicago United States | 14 | 18 |
|
Short syndrome testing (PIK3R1) Genetic Services Laboratory University of Chicago United States | 1 | 1 |
|
Rhizomelic Chondrodysplasia Punctata Panel Genetic Services Laboratory University of Chicago United States | 3 | 9 |
|
Genetic Services Laboratory University of Chicago United States | 72 | 133 |
|
Widemann-steiner syndrome testing (KMT2A) Genetic Services Laboratory University of Chicago United States | 1 | 1 |
|
Genetic Services Laboratory University of Chicago United States | 3 | 17 |
|
Genetic Services Laboratory University of Chicago United States | 10 | 15 |
|
Genetic Services Laboratory University of Chicago United States | 13 | 24 |
|
Nicolaides-baraitser syndrome testing (SMARCA2) Genetic Services Laboratory University of Chicago United States | 1 | 1 |
|
Neuronal Ceroid-Lipofuscinoses Panel Genetic Services Laboratory University of Chicago United States | 11 | 13 |
|
Genetic Services Laboratory University of Chicago United States | 9 | 13 |
|
Genetic Services Laboratory University of Chicago United States | 12 | 11 |
|
Genetic Services Laboratory University of Chicago United States | 31 | 43 |
|
Congenital Myasthenic Syndrome Panel Genetic Services Laboratory University of Chicago United States | 12 | 23 |
|
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.