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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Holoprosencephaly 3, 142945, Autosomal dominant; HPE3 (Holoprosencephaly) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Holoprosencephaly 3, 142945, Autosomal dominant; HPE3 (Holoprosencephaly) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Quantitative Genomic Medicine Laboratories, SL Spain | 184 | 162 |
|
PreventionGenetics, part of Exact Sciences United States | 177 | 163 |
|
Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel Invitae United States | 130 | 81 |
|
Holoprosencephaly Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States | 8 | 8 |
|
Baylor Genetics United States | 842 | 637 |
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Holoprosencephaly-3 (Autosomal Dominant Nonsyndromic) via the SHH Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Panel PreventionGenetics, part of Exact Sciences United States | 10 | 14 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 4 | 1 |
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Holoprosencephaly panel. 12-gene NGS panel. Genologica Medica Spain | 27 | 12 |
|
Fulgent Genetics United States | 509 | 275 |
|
Microphthalmia, Anophthalmia, and Coloboma Panel NGS Panel Fulgent Genetics United States | 244 | 78 |
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Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States | 9 | 8 |
|
Epilepsy Advanced Sequencing and CNV Evaluation Athena Diagnostics United States | 233 | 234 |
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Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations Athena Diagnostics United States | 43 | 40 |
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Asper Biogene Asper Biogene LLC Estonia | 318 | 252 |
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Quantitative Genomic Medicine Laboratories, SL Spain | 135 | 136 |
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Invitae Holoprosencephaly Panel Invitae United States | 6 | 5 |
|
Epilepsy Comprehensive NGS Panel Fulgent Genetics United States | 729 | 398 |
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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.