Invitae Alport Syndrome Panel
Use
Genetic testing for genes associated with Alport syndrome, generally characterized by renal disease and deafness with possible ocular findings. It can confirm a diagnosis, guide treatment, and manage decisions. Identification of a disease-causing variant can guide genetic counseling and inform recurrence-risk assessment.
Special Instructions
This test may be appropriate for individuals with persistent hematuria and additional symptoms such as a family history of hematuria, glomerular basement membrane abnormalities, characteristic eye lesions, or sensorineural hearing loss.
Limitations
The analysis covers clinically important regions including coding exons and selected non-coding variants. Variants outside these regions are not analyzed. Limitations include undetectable structural rearrangements, sequences with complex architecture, and possible issues with resolving mosaicism, phasing, or mapping ambiguity.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
Purple-top EDTA tube (K2EDTA or K3EDTA)