Congenital Fibrinogen Deficiency Panel
Use
This test is intended for individuals with clinical or suspected diagnoses of Congenital Fibrinogen Deficiency. It is suitable for patients with decreased fibrinogen antigen and activity levels below 0.5 g/L, and those with prolonged PT, PPT, TT, and reptilase time results. It may also be used for individuals with a family history of hypofibrinogenemia or dysfibrinogenemia.
Special Instructions
The test utilizes NGS with CNV analysis, available through either an Exome or Genome Platform. STAT testing options are available, with a turnaround time of 7 to 16 days for urgent situations.
Limitations
The test is reliant on the analysis of the 3 genes associated with congenital fibrinogen deficiency. Variants outside of these genes or in untested regions will not be detected. Sensitivities and specificities may vary depending on the specific genetic alterations and sequencing platform used.
New York Approved
Methodology
NGS (WES)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Follow standard phlebotomy procedures to collect blood samples.
Storage Instructions
Store at recommended conditions until laboratory shipping.