Hemophilia C (Factor XI Deficiency), F11 Gene, Next-Generation Sequencing, Varies

Casandra

Casandra Test Code MC55137Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID GNF11CPT Codes 81479, 88233, 88235, 88240

Hemophilia C (Factor XI Deficiency), F11 Gene, Next-Generation Sequencing, Varies

Clinical Use

Use

Evaluating factor XI deficiency (FXID) in patients with a personal or family history suggestive of FXID. Confirming an FXID diagnosis with the identification of known or suspected disease-causing alterations in the F11 gene. Determining the disease-causing alterations within the F11 gene to delineate the underlying molecular defect in a patient with a laboratory diagnosis of FXID. Identifying the causative alterations for genetic counseling purposes. Prognosis and risk assessment based on the genotype-phenotype correlations. Carrier testing for close family members of an individual with a diagnosis of FXID.

Special Instructions

Special coagulation testing for factor XI (FXI) activity should be performed prior to any genetic testing. Rare Coagulation Disorder Patient Information form is required. New York Clients-Informed consent is required. For prenatal specimens, maternal blood specimen is mandatory for Maternal Cell Contamination testing.

Limitations

Next-generation sequencing may not detect all types of genomic variants. False-negative or false-positive results may occur. Technical limitations like regions of homology, high GC content, and repetitive sequences can affect test accuracy. This test is not designed to detect low levels of mosaicism or differentiate between somatic and germline variants. Negative results do not rule out the diagnosis of a genetic disorder. Deletions and duplications extending past the panel genes might not be reported. Confirmation of select reportable variants may depend on internal laboratory criteria.

Test Details

New York Approved