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A B C D E F G H I J K L M N O P Q

Test Identifier Information

 
Registration CodeMUTA
Method

Coding regions of exons 1-26 of the factor VIII gene (F8) are amplified by PCR and analysed by DNA sequencing.

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.

Diagnostic Use / Indications

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.

External Price$0.00(Exclusive of GST)
  

Specimen Collection

 
Pre-Testing Requirements

 Please provide baseline F8C level on request form.

Patient Specimen4.0mL EDTA (Lavender)
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
Additional Information

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


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