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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
TUBA8 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
SNAP29 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
Centogene AG - the Rare Disease Company Germany | 777 | 770 |
|
Centogene AG - the Rare Disease Company Germany | 406 | 414 |
|
Centogene AG - the Rare Disease Company Germany | 740 | 728 |
|
Centogene AG - the Rare Disease Company Germany | 829 | 848 |
|
Centogene AG - the Rare Disease Company Germany | 157 | 151 |
|
Invitae Congenital Ichthyosis Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 77 | 45 |
|
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 971 | 680 |
|
Invitae Brain Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 247 | 161 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States | 886 | 547 |
|
PreventionGenetics, part of Exact Sciences United States | 177 | 161 |
|
Lissencephaly and related disorders Comprehensive test HNL Genomics Connective Tissue Gene Tests United States | 46 | 42 |
|
Lissencephaly and related disorders Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States | 46 | 42 |
|
Lissencephaly and related disorders NGS test HNL Genomics Connective Tissue Gene Tests United States | 46 | 42 |
|
Comprehensive Brain Malformation Panel Genetic Services Laboratory University of Chicago United States | 37 | 131 |
|
Polymicrogyria panel. 17-gene NGS panel. Genologica Medica Spain | 22 | 17 |
|
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.