Analysis of the DMPK gene triplet expansion - Myotonic dystrophy type I (Steinert's disease)

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Caja de Analysis of the DMPK gene triplet expansion - Myotonic dystrophy type I (Steinert's disease)

Delivery time

2 weeks

Sample

Saliva; Hisopo; Sangre

405,00€
Caja de Analysis of the DMPK gene triplet expansion - Myotonic dystrophy type I (Steinert's disease)

Steinert myotonic dystrophy, also known as myotonic dystrophy type 1, is a genetic disorder characterized by a progressive loss of muscle strength. The disease follows an autosomal dominant inheritance pattern and is caused by an unstable expansion of the CTG triplet in the DMPK gene on chromosome 19.

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MUSCULAR DYSTROPHIES / MYOPATHIES: CLINICAL EXOME PANEL (Sec. & CNVs) – 250 genes

MUSCULAR DYSTROPHIES / MYOPATHIES: CLINICAL EXOME PANEL (Sec. & CNVs) – 250 genes

850,00€