Test Entry - Detail

Dysfibrinogenaemia Genetic Mutation

General

Clinical Use:

Classical dysfibrinogenemias results from an impairment of fibrin polymerisation. They are associated with prolonged thrombin clotting times and low functional, but normal antigenic fibrinogen concentrations, and are usually caused by point mutations in the regions of the fibrinogen chain genes coding for functional domains involved in polymerisation. Hypofibrinogenemias are associated with low functional and antigenic concentrations (less than 1.5 mg/mL) and can result from a variety of different mutations. These can affect either transcription, mRNA processing, translation, polypeptide chain processing and assembly, export from the hepatocyte, or the stability of the mature protein. Although heterozygosity for any such mutations might reduce fibrinogen levels below the normal range, they would not usually be expected to produce a significant clinical condition unless inherited in a homozygous, or compound heterozygous state. In this case afibrinogenemia may result, and lead to a serious bleeding condition.

Availability:

Code:

DFGM

Handling Instructions (to laboratory):

Send sample ambient.

Hyperlink:

Reference Interval:

Not Applicable

Collection Requirements

Container:

EDTA (LAVENDER),

Sample Type:

See container

Minimum Collection Volume:

1mL

Collection Instructions:

Non-medicare rebateable item. All patients except Public, VA and Pensioners must pay $3033 upfront.

Processing Requirements

Alternate Containers:

Processing Instructions:

Please contact FSH or QEII Coagulation departments prior to ordering test.

Minimum Assay Volume:

Stability:

Transport Instructions (to testing laboratory):

Send sample ambient.

Testing Locations

Performed at:

Section	Department	Site	Contact Phone
-	Laboratory	SA Pathology-IMVS	(08) 8222 3000

Last Updated : 21-11-2024 13:54