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

Dr Belinda Chong

Phone (03) 9936 6550

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.

Genes tested