Factor XIII Deficiency, F13A1 and F13B Genes, Next-Generation Sequencing, Varies

Casandra

Casandra Test Code MC25465Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID GNF13CPT Codes 81265, 81479, 88233, 88235, 88240

Factor XIII Deficiency, F13A1 and F13B Genes, Next-Generation Sequencing, Varies

Clinical Use

Use

This test is useful for evaluating factor XIII deficiency (FXIIID) in patients with a personal or family history suggestive of FXIIID. It confirms an FXIIID diagnosis by identifying known or suspected disease-causing alterations in the F13A1 or F13B genes. The test helps in determining the disease-causing alterations within these genes to delineate the underlying molecular defect in patients with a laboratory diagnosis of FXIIID. It is also used for identifying causative alterations for genetic counseling purposes, prognosis, risk assessment based on genotype-phenotype correlations, and carrier testing for close family members of an individual diagnosed with FXIIID.

Special Instructions

Special coagulation testing for factor XIII activity should be performed prior to genetic testing. The Rare Coagulation Disorder Patient Information form is required but the test can proceed without it. New York clients must have informed consent documented. For prenatal testing, consultation with the laboratory is required, and maternal samples are necessary for all prenatal specimens.

Limitations

The next-generation sequencing may not detect all types of genomic variants. In rare cases, false-negative or false-positive results may occur due to variable depth of coverage. Some gene regions cannot be effectively evaluated due to technical limitations such as homology or high GC content. The test detects 95% of deletions up to 75 base pairs and insertions up to 47 base pairs. Deletions-insertions of 40 or more base pairs, including mobile element insertions, may be less reliably detected.

Test Details

New York Approved