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

Test Identifier Information

 
Registration CodeMPST
Method

Coding regions and flanking intronic sequences of the factor IX gene (F9) are amplified by PCR and analysed by nucleotide sequencing.

Diagnostic Use / Indications

F9 sequencing is indicated if the patient has abnormally low levels of factor IX activity. Since haemophilia B is an X-linked disorder, only males with a F9 mutation are affected (except in rare cases of skewed X-inactivation).

External Price$0.00(Exclusive of GST)
  

Specimen Collection

 
Patient Specimen4.0mL EDTA (Lavender)
Paediatric Specimen0.5 mL - 1 mL EDTA blood
Aliquot Transport to CHLAmbient
  

CHLabs Laboratory

 
DepartmentBiochemistry - Molecular Pathology
Contact Details Email Email
This e-mail address is being protected from spam bots, you need JavaScript enabled to view it
Contact Phone Number03 3640 548
Test Availability9am to 5pm, Monday to Friday
Turnaround TimeWithin 4 weeks
Uncertainty of Measurement

 Automated bidirectional DNA sequencing has an analytical sensitivity and specificity of >99%. Note that the lower limit of variant detection of sequencing analysis is ~10%, this is important to consider in the case of mosaicism, mitochondrial, and somatic variation that is not expected to be present at 50% or 100%.  This analysis will not detect variants located within intronic regions, except at the intron-exon boundaries.

Additional Information

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

Delphic Number Test Number7302

CHL Follow us on Facebook