Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
PABPN1 Gene Muscular dystrophy, oculopharyngeal NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
PABPN1 - Repeat expansion analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Oculopharyngeal Muscular Dystrophy via the PABPN1 (GCN) Repeat Expansion PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
Oculopharyngeal muscular dystrophy Molecular Diagnostic Laboratory Diagnostic Services, Shared Health Manitoba Canada | 1 | 1 |
|
CGC Genetics Unilabs Portugal | 1 | 180 |
|
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 |
|
Oculopharyngeal muscular dystrophy (GCG expansion on PABPN1 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Muscular Dystrophy, Myopathy and Myasthenia Panel Mendelics Brazil | 3 | 91 |
|
MUSCULAR DISORDERS- EMCG GLOBAL EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 416 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 245 |
|
MUSCULAR DYSTROPHIES/ MYOPATHIES PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 250 |
|
MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES) Laboratorio de Genetica Clinica SL Spain | 1 | 1372 |
|
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 | 373 | 169 |
|
Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
|
Xpanded Adult Movement Disorders Panel GeneDx United States | 5 | 473 |
|
Prenatal Known Familial Mutation GeneDx United States | 1 | 1716 |
|
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.