Clinical DNA Testing

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Fukutin-Related Protein Disorders

Test Descriptions:

FKRP     Exon Sequencing

Other Tests:

     Congenital Muscular Dystrophy

Fukuyama Congenital Dystrophy, Walker-Warburg Syndrome, Limb Girdle Muscular Dystrophy(FCMD)

Merosin-Deficient Congenital Muscular Dystrophy (LAMA2)

N-acetylglucosaminyltransferase-like protein (LARGE1)

     Limb-Girdle Muscular Dystrophy

Calpain 3(CAPN3)

Dysferlin Disorder (DYSF)

Fukuyama Congenital Dystrophy, Walker-Warburg Syndrome, Limb Girdle Muscular Dystrophy(FCMD)

Laminopathies (LMNA)

Protein O-Mannosyltransferase 1(POMT1)

Type 2D (SGCA)

Type 2E (SGCB)

     Walker-Warburg Syndrome

Fukuyama Congenital Dystrophy, Walker-Warburg Syndrome, Limb Girdle Muscular Dystrophy(FCMD)

N-acetylglucosaminyltransferase-like Protein(LARGE1)

Protein O-mannose beta-1,2-N-acetylglucosaminyltransferase(POMGnT1)

Protein O-Mannosyltransferase 1(POMT1)

Protein O-Mannosyltransferase 2(POMT2)