Cystic fibrosis: CFTR gene analysis

Diagnostic Use

CFTR full gene sequencing is requested in individuals with clinical features suggestive of cystic fibrosis or a CFTR-related disorder when targeted genotyping is uninformative. The analysis tests for sequence variants across the coding regions, exon–intron boundaries, selected non-coding regions of CFTR, and copy-number variants and can identify both common and rare variants contributing to disease.

Department

Genetics - Molecular Pathology

Delphic Registration Code

MOLP

Turnaround Time

28 days

Specimen Type

• Whole Blood
• DNA extract

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

4.0

No of Samples Required

1

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

1.0

Minimum Sample Volume (ml)

0.5

Additional Specimen Information

This genetic test needs nucleated cells. Please don’t centrifuge or freeze the EDTA blood tube.
If storing blood tube prior to delivery please refrigerate at 4 degrees (transport at ambient temperature).

An aliquot of DNA extracted by another accredited diagnostic laboratory is also an acceptable sample type. DNA extracts should be at least 20uL of DNA at a concentration no less than 20ng/uL. Please contact the laboratory to discuss specific requirements if the available DNA does not meet these standards.

Aliquot Instructions

Sample Type

• Whole Blood

Transport to Lab

Ambient (8 - 24 degrees Celsius)

Additional Referral/Aliquot Information

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

Test 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

Non-Funded Test Cost

$710.50 (Exclusive of GST)

Contact Information

Enquiry Form