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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Skeletal dysplasia and skeletal ciliopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 52 | 53 |
|
Skeletal dysplasia ciliopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 20 | 19 |
|
Skeletal dysplasia ciliopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States | 20 | 19 |
|
Skeletal dysplasia ciliopathy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 20 | 19 |
|
PreventionGenetics, part of Exact Sciences United States | 135 | 133 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 2 | 1 |
|
Retinal dystrophy panel. 260 gene NGS panel. Genologica Medica Spain | 420 | 257 |
|
Ciliopathy panel. NGS panel of 99 genes. Genologica Medica Spain | 152 | 97 |
|
Joubert syndrome panel. 36-gene NGS panel. Genologica Medica Spain | 61 | 33 |
|
Asper Biogene Asper Biogene LLC Estonia | 166 | 120 |
|
Short-rib thoracic dysplasia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 19 | 20 |
|
Invitae Perinatal Lethal Skeletal Dysplasia and Skeletal Ciliopathies Panel Invitae United States | 22 | 17 |
|
Asper Biogene Asper Biogene LLC Estonia | 28 | 23 |
|
Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 86 | 87 |
|
Invitae United States | 144 | 102 |
|
Invitae Joubert and Meckel-Gruber Syndromes Panel Invitae United States | 43 | 30 |
|
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.