Bleeding Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies

Casandra

Casandra Test Code MC23107Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID GNBLCCPT Codes 81265, 81443, 88233, 88235, 88240

Bleeding Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies

Clinical Use

Use

This test is useful for evaluating hereditary bleeding in patients with a personal or family history suggestive of a hereditary bleeding disorder. It can confirm a hereditary bleeding disorder diagnosis by identifying known or suspected disease-causing alterations in one or more of 25 genes. The test aids in delineating the underlying molecular defect in patients with laboratory diagnostics of bleeding disorders, assists in genetic counseling, and evaluates prognosis and risk based on genotype-phenotype correlations. It is also used for carrier testing for close family members of individuals diagnosed with a hereditary bleeding disorder.

Special Instructions

For prenatal specimens, testing requires consultation with the laboratory's genetic counselor. Special coagulation testing should be performed prior to genetic testing, and clinicians must ensure that acquired causes of deficiencies are excluded before proceeding. It is recommended to follow clinical guidelines for testing. Prenatal genetic testing is not performed without prior identification of familial alterations. Maternal blood specimen is necessary alongside prenatal specimens.

Limitations

Next-generation sequencing may not detect all genomic variants due to technical limitations, such as regions with high GC content or repetitive sequences. False-negative or false-positive results may occur. The test is not designed to detect low levels of mosaicism or differentiate between somatic and germline variants. The sequencing may not cover all regions effectively, and some deletions/duplications may extend beyond the targeted genes. Sensitivity is generally above 99% for single nucleotide variants and less reliable for larger deletion-insertions. Confirmation of reportable variants is performed based on internal criteria. The test is not intended to detect inversions in the F8 gene; a specific test for F8 inversions should be ordered separately if needed.

Test Details

New York Approved