MLPA Screening LongQT
Overview
MLPA screening may be performed when panel testing is negative and a copy number variant is suspected. For LongQT referrals, all genes listed are available for testing upon request. For Brugada syndrome only SCN5A is available upon request.
Category
Cost
Long QT (KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A): $250
Brugada Syndrome (SCN5A only): $125
Reporting time
2-4 months
Contacts
Phone: 1300 11 8247
Email: [email protected]
Specimen Requirements
EDTA blood: Adult: 2 x 5 ml
Child: 2 x 1-3 ml
Notes
Patient to be referred to a cardiologist or a genetics clinic.
Blood Storage Requirements: Do not freeze. Store at 4°C or room temperature.