Carrier Screen, Focused Panel

Casandra

Casandra Test Code MC42788Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID CSFPCPT Codes 81220, 81222, 81257, 81329, 81363, 81479

Carrier Screen, Focused Panel

Clinical Use

Use

This expanded carrier screening test is intended to assess reproductive risk for serious inherited conditions—such as alpha thalassemia, beta thalassemia, cystic fibrosis, fragile X syndrome, sickle cell anemia, and spinal muscular atrophy—by detecting select disease-associated variants in seven genes. It is specifically used for individuals who are pregnant or planning to become pregnant and their reproductive partner, and is not useful for clinical diagnosis of an affected individual. The test uses a targeted genotyping array, covering over 500 genetic targets, enabling carrier risk assessment but not diagnostic applications.

Special Instructions

Library of PDFs available including Molecular Genetics: Congenital Inherited Diseases Patient Information, Informed Consent for Genetic Testing (English and Spanish), and Targeted Variants Detected by Focused Carrier Screening Tests. For New York clients, informed consent must be documented on the request form or electronic order.

Limitations

Negative results do not eliminate carrier risk due to variants not interrogated or rare false negatives; positive control not available for all targeted variants; negative predictive value over 98% but residual risk depends on ethnicity and family history; rare polymorphisms could cause false positives or negatives; all variants are classified per ACMG recommendations but in silico tools used are unvalidated for sensitivity/specificity; hematopoietic stem cell transplant interferes with testing.

Test Details

New York Approved