Alport Syndrome Panel, Sequencing and Deletion/Duplication
Also known as: ALPORT NGS
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
Specimen requirements include lavendar or pink (EDTA) or yellow (ACD solution A or B) tubes, with a minimum of 2 mL whole blood. It is essential to submit the Alport Syndrome Testing Patient History Form and obtain informed consent for genetic testing, especially for New York patients, as testing is not approved for New York state clients without these considerations. Specimens from NY clients will be sent out of state.
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.
Methodology
NGS
Biomarkers
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
2 mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B). New York State Clients: Lavender (K2EDTA)
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |