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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
PABPN1 - Repeat expansion analysis Centogene US, LLC - The Rare Disease Company United States | 1 | 1 |
|
PABPN1 - Repeat expansion analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Intergen Genetic Diagnosis and Research Centre Turkey | 1 | 1 |
|
Intergen Genetic Diagnosis and Research Centre Turkey | 1 | 1 |
|
Oculopharyngeal Muscular Dystrophy via the PABPN1 (GCN) Repeat Expansion PreventionGenetics United States | 1 | 1 |
|
PABPN1. GCG expansion detection by PCR IGENOMIX Spain | 1 | 1 |
|
Oculopharyngeal muscular dystrophy Molecular Diagnostic Laboratory Diagnostic Services, Shared Health Manitoba Canada | 1 | 1 |
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Genetic Test for oculopharyngeal muscular dystrophy CGPP - Center for Predictive and Preventive Genetics IBMC - Institute for Cell and Molecular Biology Portugal | 1 | 1 |
|
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain | 374 | 169 |
|
Unilabs Genetics CGC Genetics Portugal | 316 | 180 |
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Oculopharyngeal muscular dystrophy (GCG expansion on PABPN1 gene) Unilabs Genetics CGC Genetics Portugal | 1 | 1 |
|
Congenital muscular dystrophies (NGS panel for 31 genes) Unilabs Genetics CGC Genetics Portugal | 77 | 31 |
|
Arthrogryposis (WES based NGS panel for 240 genes, including CNV analysis) Unilabs Genetics CGC Genetics Portugal | 451 | 240 |
|
Congenital muscular dystrophies (WES based NGS panel for 46 genes, including CNV analysis) Unilabs Genetics CGC Genetics Portugal | 97 | 46 |
|
GeneDx United States | 1 | 1 |
|
Oculopharyngeal muscular dystrophy CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario Canada | 1 | 1 |
|
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Reference Laboratory Genetics Spain | 160 | 111 |
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Oculopharyngeal muscular dystrophy Molecular Genetics Laboratory North York General Hospital Canada | 1 | 1 |
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MUSCULAR DYSTROPHY, OCULOPHARYNGEAL Laboratorio de Genetica Clinica SL Spain | 1 | 1 |
|
Neuromuscular Disorders NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 237 | 144 |
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