Myotonic Dystrophy
Overview
Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system and central nervous system. Myotonic dystrophy has three categories: mild, classic, and congenital. Congenital DM1 is the severist form of DM1 and is characterised by hypotonia and severe generalised weakness at birth, often with respiratory insufficiency; intellectual disability is common. DM1 is caused by the alteration of the DMPK gene.
Category
Cost
PCR + TP-PCR $440
Prenatal (PCR + TP-PCR + Maternal cell contamination) $600
Victorian Patients Only: State funding for Diagnostic, Predictive and Prenatal testing.
Reporting time
4 - 6 weeks (PCR)
2 - 4 weeks (Prenatal)
Contacts
Phone: 1300 11 8247
Email: [email protected]
Specimen Requirements
EDTA blood: Adult: 2 x 5 ml
Child: 2 x 1-3 ml
Prenatal:
Amniotic Fluid 20ml
Chorionic Villus 20mg
Notes
Patient to be referred to a neurologist for diagnostic tests and to a genetics clinic for predictive/prenatal testing.
Blood Storage Requirements: Do not freeze. Store at 4°C or room temperature.