Protein S Deficiency, PROS1 Gene, Next-Generation Sequencing, Varies

Casandra

Casandra Test Code MC73873Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID GNPRSCPT Code 81479

Protein S Deficiency, PROS1 Gene, Next-Generation Sequencing, Varies

Clinical Use

Use

This test is used to evaluate protein S deficiency in patients with a personal or family history suggestive of hereditary thrombophilia. It confirms a diagnosis of autosomal dominant or autosomal recessive protein S deficiency by identifying disease-causing alterations in the PROS1 gene. Additionally, it is used for determining disease-causing alterations within the PROS1 gene to delineate the underlying molecular defect, assessing prognosis and risk based on genotype-phenotype correlations, and ascertaining the variant status of family members for clinical management and genetic counseling.

Special Instructions

The test is not intended for prenatal diagnosis. Providers are encouraged to fill out the Rare Coagulation Disorder Patient Information form to aid in result interpretation. NY State clients require informed consent for genetic testing. Patient specimens should arrive within 96 hours of collection.

Limitations

Next-generation sequencing may not detect all genomic variants. False negatives or positives can occur and certain regions may not be effectively evaluated due to technical limitations, such as high GC content or repetitive sequences. This test may not detect low levels of mosaicism or differentiate between somatic and germline variants. Variants classified as benign or likely benign are not reported.

Test Details

New York Approved