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

Clinical Use

Use

This test provides a comprehensive genetic evaluation for patients with a personal or family history suggestive of a red blood cell (RBC) membrane disorder. It is used for second-tier testing when previous targeted gene variant analyses were negative and for establishing a diagnosis of a hereditary RBC membrane disorder. Identifying disease-causing variants can assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for these disorders.

Special Instructions

Not provided.

Limitations

Next-generation sequencing may not detect all genomic variants. Rare false negatives or positives can occur. Some gene regions may not be effectively evaluated due to high GC content or repetitive sequences. Deletions/duplications extending past the panel genes may not be interpreted for haploinsufficiency/triplosensitivity. This test is not designed for low levels of mosaicism or differentiating somatic from germline variants. Technical limitations should be considered, and alternative methods may be necessary for suspected specific clinical disorders.

Test Details

New York Approved