Congenital Fibrinogen Deficiency Panel

Casandra

Casandra Test Code PG62618Version 1 (DRAFT)

Performing Lab

Lab Prevention GeneticsLab Test ID 10119CPT Code 81479

Congenital Fibrinogen Deficiency Panel

Clinical Use

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.

Test Details

New York Approved

Methodology

NGS (WES)

Biomarkers

This test employs Next-Generation Sequencing with CNV analysis using either an Exome or Genome Platform to identify genetic mutations associated with congenital fibrinogen deficiency across 3 key genes.

NGS Sequencing with CNV Analysis • WES