Congenital Fibrinogen Disorders, FGA, FGB, and FGG Genes, Next-Generation Sequencing, Varies

Casandra

Casandra Test Code MC46138Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID GNFIBCPT Code 81479

Congenital Fibrinogen Disorders, FGA, FGB, and FGG Genes, Next-Generation Sequencing, Varies

Clinical Use

Use

This test is useful for evaluating congenital fibrinogen disorders (CFD) in patients with a personal or family history suggestive of a fibrinogen disorder. It confirms a CFD diagnosis by identifying known or suspected disease-causing alterations in the FGA, FGB, or FGG genes. The test helps determine the disease-causing alterations within these genes to delineate the underlying molecular defect in patients with a laboratory diagnosis suggestive of CFD. It is also used for genetic counseling purposes, prognosis, and risk assessment based on genotype-phenotype correlations. Carrier testing for close family members of an individual with autosomal recessive afibrinogenemia/hypofibrinogenemia is another application.

Special Instructions

This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in the FGA, FGB, and FGG genes. All prenatal specimens must be accompanied by a maternal blood specimen to perform maternal cell contamination testing. Consultation with the laboratory is required for all prenatal testing.

Limitations

Next-generation sequencing may not detect all types of genomic variants. There may be regions of genes that cannot be effectively evaluated by sequencing or deletion and duplication analysis due to technical limitations, including regions of homology, GC content, and repetitive sequences. The test is not designed to detect low levels of mosaicism or differentiate between somatic and germline variants. Results may be inaccurate in patients with a bone marrow transplant due to donor DNA presence.

Test Details

New York Approved