Filters
Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
CHST3 Gene Spondyloepiphyseal dysplasia with congenital joint dislocations NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
CHST3 - 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 Connective Tissue Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 195 | 92 |
|
Invitae Supplemental Metabolic Newborn Screening Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 253 | 189 |
|
Congenital Disorders of Glycosylation Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 1 | 141 |
|
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 624 | 349 |
|
Desbuquois dysplasia and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 3 | 11 |
|
Desbuquois dysplasia and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 3 | 11 |
|
Desbuquois dysplasia and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States | 3 | 11 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
|
Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States | 166 | 101 |
|
Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 625 |
|
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 |
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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.