Filters
Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Thanatophoric Dysplasia (FGFR3 gene) Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile | 2 | 1 |
|
FGFR3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 14 | 1 |
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PreventionGenetics, part of Exact Sciences United States | 285 | 137 |
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Invitae Comprehensive Deafness Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 405 | 219 |
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Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 624 | 349 |
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Invitae Limb and Digital Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 356 | 177 |
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Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States | 291 | 148 |
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Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States | 320 | 231 |
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THANATOPHORIC DYSPLASIA, TYPE I; TD1 (Thanatophoric dysplasia) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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PreventionGenetics, part of Exact Sciences United States | 220 | 128 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 63 | 23 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 110 | 45 |
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PreventionGenetics, part of Exact Sciences United States | 177 | 161 |
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Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States | 362 | 227 |
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Overgrowth and Macrocephaly Syndromes Panel PreventionGenetics, part of Exact Sciences United States | 145 | 112 |
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PreventionGenetics, part of Exact Sciences United States | 156 | 73 |
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Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 52 | 53 |
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Skeletal dysplasia and skeletal ciliopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States | 52 | 53 |
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Skeletal dysplasia and skeletal ciliopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 52 | 53 |
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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.