Clinical DNA Testing

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Fukuyama Congenital Muscular Dystrophy, Walker-Warburg Syndrome, Limb Girdle Muscular Dystrophy

Test Descriptions:

FKTN    Exon Sequencing

Japanese Founder Mutation PCR

Other Tests:

     Congenital Muscular Dystrophies

Fukutin-Related Protein Disorders (FKRP)

Merosin-Deficient Congenital Muscular Dystrophy (LAMA2)

N-acetylglucosaminyltransferase-like protein (LARGE1)

     Limb-Girdle Muscular Dystrophies

Calpain 3(CAPN3)

Dysferlin Disorder (DYSF)

Fukutin-Related Protein Disorders (FKRP)

Laminopathies (LMNA)

Protein O-Mannosyltransferase 1(POMT1)

Type 2D (SGCA)

Type 2E (SGCB)

     Walker-Warburg Syndrome

Fukutin-Related Protein Disorders (FKRP)

N-acetylglucosaminyltransferase-like Protein(LARGE1)

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

Protein O-Mannosyltransferase 1(POMT1)

Protein O-Mannosyltransferase 2(POMT2)