Cystic Fibrosis: CFTR Genotype

Diagnostic Use

CFTR genotyping is requested as part of diagnostic investigations into individuals with a clinical suspicion of cystic fibrosis or related CFTR-associated disorders; familial cascade testing; infertility investigations; and carrier-screening. The analysis targets a curated panel of 50 common pathogenic CFTR variants with established clinical utility.

Department

Genetics - Molecular Pathology

Delphic Registration Code

MOLP

Turnaround Time

4 weeks

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

This test requires nucleated cells. Please do not centrifuge or freeze blood samples
If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

Reference Intervals

Variants detected

CFTRdele 2,3	I507del	2789+5G>A
E60X	F508del	Q890X
P67L	1677delTA	3120+1G>A
G85E	V520F	3272-26A>G
394delTT	1717-1G>A	R1066C
444delA	G542X	Y1092X(C>A)
R117C	S549N	M1101K
R117H	S549R T>G	D1152H
Y122X	G551D	R1158X
621+1G>T	R553X	R1162X
711+1G>T	R560T	3659delC
L206W	1811+1.6kbA>G	3849+10kbC>T
1078delT	1898+1G>A	S1251N
R334W	2143delT	3905insT
R347P	2184delA	W1282X
R347H	2347delG	N1308K
A455E	W846X

For CFTR sequencing, please refer to: Cystic fibrosis: CFTR gene analysis

 

Test Method

CF-EU2v1 is a cystic fibrosis testing kit designed specifically to address the most common mutations found in populations of European origin. The assay identifies 50 mutations in total and also analyses the intron 9 polyT tract with accurate measurement of the adjacent TG repeat.

Non-Funded Test Cost

$402.20 (Exclusive of GST)

Billing Code

9431

Genomic DNA must be extracted from the specimen prior to testing. This incurs an additional charge (see GDNA). Laboratories may prefer to submit DNA for testing. Please provide a minimum of 5 micrograms of DNA at 20 nanograms/microlitre.

For deletion/duplication analysis of this gene refer to MLPA deletion/duplication analysis

Contact Information

Enquiry Form