Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
HSPB1 Gene CMT2F NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
TRIM37 Gene Mulibrey nanism NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Genetic Services Laboratory University of Chicago United States | 18 | 32 |
|
Centogene AG - the Rare Disease Company Germany | 316 | 314 |
|
TRIM37 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 8 | 112 |
|
Peroxisomal Disorder Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 4 | 28 |
|
Invitae Skeletal Disorders Panel Invitae United States | 624 | 349 |
|
Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences United States | 242 | 146 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
PreventionGenetics, part of Exact Sciences United States | 48 | 28 |
|
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
|
Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
|
PreventionGenetics, part of Exact Sciences United States | 36 | 27 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 1 | 1 |
|
CGC Genetics Unilabs Portugal | 1 | 837 |
|
Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 10 | 930 |
|
Clefting (WES based NGS panel of 231 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 231 |
|
Syndromes with short stature (WES based NGS panel of 104 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 104 |
|
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.