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Results: 1 to 20 of 35

Tests names and labsConditionsGenes, analytes, and microbesMethods

PABPN1 - Repeat expansion analysis

Centogene US, LLC - The Rare Disease Company
United States
11
  • T Targeted variant analysis

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 Genetic Diagnosis and Research Centre
Turkey
11
  • T Targeted variant analysis

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

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • T Targeted variant analysis

Oculopharyngeal Muscular Dystrophy via the PABPN1 (GCN) Repeat Expansion

PreventionGenetics
United States
11
  • E Sequence analysis of select exons

PABPN1. GCG expansion detection by PCR

IGENOMIX
Spain
11
  • T Targeted variant analysis

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
374169
  • C Sequence analysis of the entire coding region

Myopathies, including congenital myopathies (WES based NGS panel of 180 genes, including CNV analysis)

Unilabs Genetics CGC Genetics
Portugal
316180
  • C Sequence analysis of the entire coding region

Oculopharyngeal muscular dystrophy (GCG expansion on PABPN1 gene)

Unilabs Genetics CGC Genetics
Portugal
11
  • T Targeted variant analysis

Congenital muscular dystrophies (NGS panel for 31 genes)

Unilabs Genetics CGC Genetics
Portugal
7731
  • C Sequence analysis of the entire coding region

Arthrogryposis (WES based NGS panel for 240 genes, including CNV analysis)

Unilabs Genetics CGC Genetics
Portugal
451240
  • C Sequence analysis of the entire coding region

Congenital muscular dystrophies (WES based NGS panel for 46 genes, including CNV analysis)

Unilabs Genetics CGC Genetics
Portugal
9746
  • 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
160111
  • 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
239144
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 35

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