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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
COL9A1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
|
Invitae Connective Tissue Disorders Panel Invitae United States | 195 | 92 |
|
PreventionGenetics, part of Exact Sciences United States | 285 | 137 |
|
Invitae Comprehensive Deafness Panel Invitae United States | 405 | 219 |
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Invitae Skeletal Disorders Panel Invitae United States | 624 | 349 |
|
Invitae Stickler Syndrome Panel Invitae United States | 32 | 9 |
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Multiple epiphyseal dysplasia (MED) Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 8 | 7 |
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Multiple epiphyseal dysplasia (MED) Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 8 | 7 |
|
Invitae Inherited Retinal Disorders Panel Invitae United States | 486 | 293 |
|
Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States | 166 | 101 |
|
Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States | 360 | 222 |
|
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 79 | 54 |
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Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 79 | 54 |
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Multiple epiphyseal dysplasia (MED) Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 8 | 7 |
|
Multiple epiphyseal dysplasia (MED) Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 8 | 8 |
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Comprehensive Vitreoretinopathy Panel PreventionGenetics, part of Exact Sciences United States | 26 | 21 |
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Multiple Epiphyseal Dysplasia Panel PreventionGenetics, part of Exact Sciences United States | 29 | 10 |
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Multiple Epiphyseal Dysplasia and Stickler Syndrome, Autosomal Recessive via the COL9A1 Gene PreventionGenetics, part of Exact Sciences United States | 2 | 1 |
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Syndromic Hearing Loss NGS Panel Fulgent Genetics United States | 223 | 83 |
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Comprehensive Hearing Loss NGS Panel Fulgent Genetics United States | 332 | 167 |
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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.