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Results: 1 to 20 of 74

Tests names and labsConditionsGenes, analytes, and microbesMethods

Myotonic Dystrophy - DMPK Gene

Center for Genetics at Saint Francis Saint Francis Hospital
United States
11
  • T Targeted variant analysis

Myotonic Dystrophy

Genetics Laboratory Shodair Children's Hospital
United States
11
  • T Targeted variant analysis

DMPK Gene Myotonic dystrophy type 1 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Myotonic Dystrophy type 1 (DMPK gene)

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
11
  • T Targeted variant analysis

Diagnostic génotypique direct de la dystrophie myotonique de Steinert (Gène DM)

Laboratoire de Diagnostic Moleculaire Hopital Saint-Francois d'Assise du CHU de Québec UL
Canada
11
  • T Targeted variant analysis

Dystrophia myotonica protein kinase (DMPK) gene CTG triplet repeat test

Neurogenetics Department Cyprus Institute of Neurology and Genetics
Cyprus
11
  • T Targeted variant analysis

DMPK - Repeat expansion analysis

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

DMPK - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Panel

Centogene AG - the Rare Disease Company
Germany
325316
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Myotonic dystrophy 1, 160900, Autosomal dominant; DM1 (Steinert myotonic dystrophy)(Repeat Analysis)

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

Genomic Unity Neuromuscular Disorders Analysis (includes STR analysis of CNBP, DMPK, GIPC1, LRP12, RFC1 and VWA1 genes).

Variantyx, Inc.
United States
53
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Myotonic Dystrophy (PCR only)

IU Genetic Testing Laboratories Indiana University School of Medicine
United States
11
  • T Targeted variant analysis

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Prenatal diagnosis for Myotonic Dystrophy: I or II

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
11
  • T Targeted variant analysis

Myotonic Dystrophy : Triple repeat expansion CTG study

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
11
  • T Targeted variant analysis

Myotonic Dystrophy Type 1 Repeat Expansion Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

Myotonic Dystrophy Type 1 Repeat Expansion Analysis

Baylor Genetics
United States
11
  • T Targeted variant analysis

myotonic dystrophy type 1

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

Congenital Hypotonia Evaluation

GeneDx
United States
43
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 74

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.