Alport Syndrome Panel, Sequencing and Deletion/Duplication

Also known as: ALPORT NGS

Clinical Use

Use

Alport syndrome (AS) is characterized by renal insufficiency, sensorineural hearing loss (SNHL), and ocular findings. The test is used to confirm carrier status or a diagnosis of Alport syndrome, which may exhibit a range from a slowly progressive disorder with late-life renal insufficiency and SNHL to early-onset SNHL and end-stage renal disease by age 20. The panel also addresses MYH9-related disease, characterized by enlarged platelets and thrombocytopenia with potential adult-onset renal disease and SNHL. Genes COL4A3, COL4A4, COL4A5, and MYH9 are analyzed for pathogenic variants, necessary for definitive diagnosis and genetic counseling.

Special Instructions

Not provided.

Limitations

The test only detects variants in coding regions and intron-exon boundaries of targeted genes and might miss other genomic variants. Single exon deletions/duplications are difficult to detect due to potential inaccuracies associated with breakpoints. Massively parallel sequencing might not identify regulatory region variants or deep intronic changes and is not equipped to find low-level mosaicism or somatic alterations. False negatives might occur due to technicalities involving pseudogenes or homologous regions. Diagnostic errors can occur from rare sequence variations, particularly if the patient has undergone an allogeneic stem cell transplant.

Test Details