Filters
Other countries
Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
PAPSS2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 498 | 498 |
|
Centogene AG - the Rare Disease Company Germany | 499 | 499 |
|
Centogene AG - the Rare Disease Company Germany | 740 | 728 |
|
Invitae Supplemental Metabolic Newborn Screening Panel Invitae United States | 253 | 189 |
|
Invitae Skeletal Disorders Panel Invitae United States | 624 | 349 |
|
Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States | 320 | 231 |
|
PreventionGenetics, part of Exact Sciences United States | 231 | 139 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 64 | 23 |
|
Spondylo-Epi-Metaphyseal dysplasias NGS panel HNL Genomics Connective Tissue Gene Tests United States | 79 | 54 |
|
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 79 | 54 |
|
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 79 | 54 |
|
Invitae Congenital Disorders of Glycosylation Panel Invitae United States | 203 | 152 |
|
Short Rib Skeletal Dysplasia Panel PreventionGenetics, part of Exact Sciences United States | 24 | 19 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 1 | 1 |
|
Spondylometaphyseal / spondyloepimetaphyseal dysplasia panel. 28-gene NGS panel. Genologica Medica Spain | 69 | 28 |
|
Central skeletal dysplasias panel. NGS panel of 111 genes. Genologica Medica Spain | 258 | 111 |
|
Brachyolmia 4 with mild epiphyseal and metaphyseal changes: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 1 | 1 |
|
Fulgent Genetics United States | 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.