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Results: 1 to 20 of 27

Tests names and labsConditionsGenes, analytes, and microbesMethods

PABPN1 - Repeat expansion analysis

Centogene AG - the Rare Disease Company
Germany
11
  • T Targeted variant analysis

Oculopharyngeal muscular dystrophy, 164300, Autosomal dominant; OPMD (Oculopharyngeal muscular dystrophy)(Repeat Analysis)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • T Targeted variant analysis

Oculopharyngeal muscular dystrophy, 164300, Autosomal dominant; OPMD (Oculopharyngeal muscular dystrophy) (Prenatal)(Repeat Analysis)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • T Targeted variant analysis

Oculopharyngeal Muscular Dystrophy via the PABPN1 (GCN) Repeat Expansion

PreventionGenetics, part of Exact Sciences
United States
11
  • E Sequence analysis of select exons

Oculopharyngeal muscular dystrophy

Molecular Diagnostic Laboratory Diagnostic Services, Shared Health Manitoba
Canada
11
  • T Targeted variant analysis

Genetic Test for oculopharyngeal muscular dystrophy

CGPP - Center for Predictive and Preventive Genetics IBMC - Institute for Cell and Molecular Biology
Portugal
11
  • D Deletion/duplication analysis

Skeletal diseases. NGS panel of 169 genes.

Genologica Medica
Spain
373169
  • C Sequence analysis of the entire coding region

PABPN1  Repeat Analysis

GeneDx
United States
11
  • C Sequence analysis of the entire coding region

Oculopharyngeal muscular dystrophy

CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario
Canada
11
  • T Targeted variant analysis

Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes

Reference Laboratory Genetics
Spain
159111
  • C Sequence analysis of the entire coding region

Oculopharyngeal muscular dystrophy

Molecular Genetics Laboratory North York General Hospital
Canada
11
  • T Targeted variant analysis

MUSCULAR DYSTROPHY, OCULOPHARYNGEAL

Laboratorio de Genetica Clinica SL
Spain
11
  • T Targeted variant analysis

Neuromuscular Disorders NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
233144
  • C Sequence analysis of the entire coding region

BCL2L2-PABPN1 Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

BCL2L2 Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Oculopharyngeal muscular dystrophy

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

PABPN1

MGZ Medical Genetics Center
Germany
21
  • C Sequence analysis of the entire coding region

Single gene testing PABPN1

CeGaT GmbH
Germany
11
  • C Sequence analysis of the entire coding region

Muscular Dystrophies Panel

CeGaT GmbH
Germany
3732
  • C Sequence analysis of the entire coding region

Oculopharyngeal muscular dystrophy

MVZ Dr. Eberhard & Partner Dortmund
Germany
11
  • E Sequence analysis of select exons

Results: 1 to 20 of 27

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.