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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
KITLG - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 4 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
Centogene AG - the Rare Disease Company Germany | 734 | 744 |
|
Centogene AG - the Rare Disease Company Germany | 740 | 728 |
|
Centogene AG - the Rare Disease Company Germany | 203 | 194 |
|
Centogene AG - the Rare Disease Company Germany | 157 | 151 |
|
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 971 | 680 |
|
Invitae Hypopigmentation Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 83 | 46 |
|
Invitae Comprehensive Deafness Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 405 | 219 |
|
Invitae Brain Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 247 | 161 |
|
PreventionGenetics, part of Exact Sciences United States | 29 | 28 |
|
PreventionGenetics, part of Exact Sciences United States | 79 | 52 |
|
Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States | 362 | 227 |
|
Cortical Dysplasia, Complex, with Other Brain Malformations 4 via the TUBG1 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
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 |
|
PreventionGenetics, part of Exact Sciences United States | 2 | 1 |
|
Comprehensive Brain Malformation Panel Genetic Services Laboratory University of Chicago United States | 37 | 131 |
|
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.