Invitae Cystinuria Panel
Use
The Invitae Cystinuria Panel analyzes 3 genes associated with cystinuria, a disorder affecting the reabsorption of amino acids, including cystine in the kidney and bladder. This panel aids in confirming a cystinuria diagnosis, guiding treatment and management decisions, and providing genetic counseling and reproductive risk assessment for at-risk relatives.
Special Instructions
Not provided.
Limitations
The assay analyzes full-gene sequencing and deletion/duplication analysis using NGS technology. It covers clinically important regions, but not all non-coding regions or structural rearrangements. Some variant details like mosaicism may not be fully resolved. Single-exon events might not be analyzed due to sequence properties or data quality.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
PREPL, SLC3A1, SLC7A9
Gene
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)
Other tests from different labs that may be relevant