Congenital Dyserythropoietic Anemia Gene Panel, Next-Generation Sequencing, Varies

Casandra

Casandra Test Code MC63389Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID NCDACPT Code 81479

Congenital Dyserythropoietic Anemia Gene Panel, Next-Generation Sequencing, Varies

Clinical Use

Use

The test is useful for confirming the diagnosis or carrier variant status of genes associated with congenital dyserythropoietic anemia. It helps identify variants within genes associated with phenotypic severity, thereby aiding predictive testing and genetic counseling. The test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 6 genes correlated with congenital dyserythropoietic anemia: CDAN1, CDIN1 (C15orf41), GATA1, KIF23, KLF1, and SEC23B. Accurate detection of a disease-causing variant can assist with diagnosis, prognosis, clinical management, and recurrence risk assessment.

Special Instructions

A prior bone marrow transplant from an allogenic donor can interfere with testing results. For testing patients who have received a bone marrow transplant, consult Mayo Clinic Laboratories. Submission of the Metabolic Hematology Next-Generation Sequencing Patient Information form is recommended but not required. If not provided, include clinical diagnosis, pertinent clinical history, complete blood cell count results, and differentials from prior studies.

Limitations

Next-generation sequencing may not detect all genomic variants; rare false negatives/positives can occur. Sequencing or deletion/duplication analysis might not cover certain gene regions due to technical limitations like homology or high GC content. The test is not intended to detect low levels of mosaicism or differentiate between somatic and germline variants. Deletions up to 75 bp and insertions up to 47 bp are reliably detected. Detection of deletions in single/multi-exon may vary based on sequence coverage. Misinterpretations can occur if clinical data is incomplete.

Test Details

New York Approved