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Test Identifier Information

 
Registration CodeMUTA
Method

The promotor, coding regions of exons 1-24, and flanking intronic sequences of the CFTR gene are analysed using an Ampliseq-for-Illumina next generation sequencing (NGS) custom panel on an Illumina MiSeq instrument. 

Analysis may also include Multiplex ligation-dependent probe amplification (MLPA) to detect large-scale insertion or deletion variants (this will incur an additional charge).

A full gene screen of the CFTR gene is aimed at identifying rare CFTR mutations increasing mutation coverage to ~98%.

For CFTR screening of the common 50 CFTR mutations please refer to Cystic Fibrosis: CFTR Genotyping

External Price$710.50(Exclusive of GST)
  

Specimen Collection

 
Patient Specimen4.0mL EDTA,
Paediatric Specimen0.5 mL - 1 mL EDTA blood
Sample Delivery to LabAmbient
  

CHLabs Laboratory

 
DepartmentBiochemistry - Molecular Pathology
Contact Details Email Email
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Contact Phone Number03 3640 548
Test Availability9am to 5pm, Monday to Friday
Turnaround Time28 days
Additional Information

If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

 


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