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Results: 1 to 20 of 21

Tests names and labsConditionsGenes, analytes, and microbesMethods

CAV3 Sequencing

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • S Mutation scanning of the entire coding region

Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR)

MGZ Medical Genetics Center
Germany
690
  • C Sequence analysis of the entire coding region

Muscle Weakness (Myopathy, Muscular Dystrophy)

MGZ Medical Genetics Center
Germany
6179
  • C Sequence analysis of the entire coding region

Muscle Disease with Distal Myopathy

MGZ Medical Genetics Center
Germany
628
  • C Sequence analysis of the entire coding region

Muscle Disease with Contractures and/or Rigid Spine

MGZ Medical Genetics Center
Germany
626
  • C Sequence analysis of the entire coding region

Newborn: “Floppy Infant “

MGZ Medical Genetics Center
Germany
673
  • C Sequence analysis of the entire coding region

Congenital Muscular Dystrophy, Collagen Type VI-Associated (Bethlem/Ullrich) and Phenocopies

MGZ Medical Genetics Center
Germany
67
  • C Sequence analysis of the entire coding region

Histological Structural Myopathy (Nemaline / Core / Centronuclear), Congenital Myopathy

MGZ Medical Genetics Center
Germany
615
  • C Sequence analysis of the entire coding region

Histological Myofibrillar Myopathy

MGZ Medical Genetics Center
Germany
612
  • C Sequence analysis of the entire coding region

Dystroglycanopathies

MGZ Medical Genetics Center
Germany
76
  • C Sequence analysis of the entire coding region

Myopathy – Rigid Spine

MGZ Medical Genetics Center
Germany
710
  • C Sequence analysis of the entire coding region

Muscular Dystrophy: Emery-Dreifuss

MGZ Medical Genetics Center
Germany
76
  • C Sequence analysis of the entire coding region

Muscular Dystrophy: Limb Girdle - autosomal recessive

MGZ Medical Genetics Center
Germany
716
  • C Sequence analysis of the entire coding region

Muscular Dystrophy: Limb Girdle - autosomal dominant

MGZ Medical Genetics Center
Germany
75
  • C Sequence analysis of the entire coding region

Muscle Pain - fluctuating CK - Rhabdomyolysis

MGZ Medical Genetics Center
Germany
726
  • C Sequence analysis of the entire coding region

Muscular Dystrophy: X-linked

MGZ Medical Genetics Center
Germany
73
  • C Sequence analysis of the entire coding region

Distal Myopathy Panel

FirmaLab
United States
1111
  • C Sequence analysis of the entire coding region

Caveolinopathies CAV3

MGZ Medical Genetics Center
Germany
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Caveolinopathies

MVZ Dr. Eberhard & Partner Dortmund
Germany
11
  • C Sequence analysis of the entire coding region

Caveolinopathy Testing

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

Results: 1 to 20 of 21

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.