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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Myasthenia, congenital (sequence analysis of DOK7 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Genetic Services Laboratory University of Chicago United States | 72 | 133 |
|
CCDC88A - 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 | 734 | 744 |
|
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 971 | 680 |
|
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
|
Labcorp Genetics (formerly Invitae) LabCorp United States | 466 | 297 |
|
MNG Laboratories (Medical Neurogenetics, LLC.) United States | 414 | 800 |
|
CGC Genetics Unilabs Portugal | 1 | 759 |
|
Lymphedema hereditary (WES based NGS panel of 22 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 22 |
|
Clinically Recognized Syndromes Panel Mendelics Brazil | 1 | 236 |
|
Mendelics Brazil | 1 | 240 |
|
PEHO syndrome-like: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 1 | 1 |
|
Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
|
Congenital Hypotonia Xpanded Panel GeneDx United States | 10 | 1423 |
|
Comprehensive Dementia (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States | 10 | 145 |
|
GeneDx United States | 1 | 877 |
|
GeneDx United States | 2 | 2592 |
|
GeneDx United States | 1 | 1501 |
|
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.