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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Genetic Services Laboratory University of Chicago United States | 31 | 43 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 1 | 216 |
|
Genetic Services Laboratory University of Chicago United States | 116 | 137 |
|
Genetic Services Laboratory University of Chicago United States | 116 | 137 |
|
MYMK - 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 | 325 | 316 |
|
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
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Comprehensive Neuromuscular Panel PreventionGenetics, part of Exact Sciences United States | 376 | 266 |
|
Neuromuscular diseases panel_v.2.0 CGC Genetics Unilabs Portugal | 17 | 248 |
|
CGC Genetics Unilabs Portugal | 1 | 181 |
|
Clefting (WES based NGS panel of 231 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 231 |
|
Arthrogryposis (WES based NGS panel for 240 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 240 |
|
Congenital muscular dystrophies (WES based NGS panel for 46 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 46 |
|
Carey-Fineman-Ziter syndrome (sequence analysis of MYMK) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Neuromuscular Diseases Panel (Expanded) Mendelics Brazil | 1 | 288 |
|
Neuromuscular Diseases Panel (DNAmplo) Mendelics Brazil | 1 | 109 |
|
Carey-Fineman-Ziter syndrome: 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 |
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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.