Haemophilia A

Diagnostic Use

F8 gene analysis is indicated in male patients with abnormally low F8C levels. Since haemophilia A is an X-linked disorder, F8 analysis is generally not performed on females.

Cascade testing of relatives of patients with an identified F8 mutation is also offered. This is particularly useful for identifying carrier females, who may have ambiguous F8C levels.

Department

Genetics - Molecular Pathology

Delphic Registration Code

MOLP

Specimen Type

• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

4.0

No of Samples Required

1

Pre-testing Requirements

Please provide baseline F8C level on request form.

Additional Specimen Information

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

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

Patient DNA is analysed using a Twist Bioscience next generation sequencing (NGS) custom panel on an Illumina MiSeq instrument. The panel targets coding regions and intron-exon boundaries of the F8 gene (NM_000132.4).

For severe haemophilia A cases, if a pathogenic mutation cannot be identified by sequence analysis the common intron 1 and intron 22 inversions will be tested.

Contact Canterbury Health Laboratories on +64 3 364 0484 or email LabInfo@cdhb.health.nz

Contact Information

Enquiry Form