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Results: 21 to 40 of 47

Tests names and labsConditionsGenes, analytes, and microbesMethods

Custom XomeDxSlice (2-150 Genes, Proband Only)

GeneDx
United States
11718
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mosaic Carrier Test    

GeneDx
United States
11040
  • T Targeted variant analysis

Two Known Familial Variants in a Nuclear Gene

GeneDx
United States
11043
  • T Targeted variant analysis

One Known Familial Variant in a Nuclear Gene

GeneDx
United States
11045
  • T Targeted variant analysis

PABPN1  Repeat Analysis

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

MitoXpanded Panel

GeneDx
United States
11818
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular disorders - different panels

Institute of Human Genetics Cologne University
Germany
16474
  • D Deletion/duplication analysis
  • 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

Comprehensive Muscular Dystrophy / Myopathy Panel

Blueprint Genetics
Finland
273
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Neuromuscular Panel

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
679
  • 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

Congenital and Distal Myopathies Panel

CeGaT GmbH
Germany
4973
  • 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: 21 to 40 of 47

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.