Red Blood Cell Enzyme Disorders Gene Panel, Next-Generation Sequencing, Varies

Casandra

Casandra Test Code MC55884Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID NENZCPT Code 81443

Red Blood Cell Enzyme Disorders Gene Panel, Next-Generation Sequencing, Varies

Clinical Use

Use

This test provides a comprehensive genetic evaluation for individuals with a personal or family history suggesting an underlying red blood cell enzymopathy. It is instrumental in identifying variants within genes that are associated with phenotypic severity, allowing for predictive testing and further genetic counseling. Identification of a disease-causing variant can assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for inherited red blood cell enzymopathies.

Special Instructions

It is recommended to accompany this test with protein functional findings by enzymatic assay, complete blood cell count, and peripheral blood findings for a full interpretation. If blood has been transfused recently, variants might be masked. Contact the laboratory genetic counselors at Mayo Clinic Laboratories for additional testing options. Necessary forms like Metabolic Hematology NGS Patient Information are recommended but not required.

Limitations

Next-generation sequencing may not detect all types of genomic variants. In rare cases, false-negative or false-positive results may occur. The limitations include technical constraints in regions with high GC content, repetitive sequences, or homology. The test is not confirmed to detect low levels of mosaicism or differentiate between somatic and germline variants. Genes shown might be updated based on emerging clinical relevance.

Test Details

New York Approved