Cystinuria Panel
Use
The Cystinuria Panel is intended for individuals with a clinical or suspected diagnosis of cystinuria, those with urinary excretion of cystine and dibasic amino acids, and individuals with a family history of presumed cystinuria without prior genetic testing. This test helps in diagnosing cystinuria, a condition that affects how cystine is reabsorbed in the kidneys, leading to the formation of cystine stones.
Special Instructions
This panel utilizes next-generation sequencing (NGS) with Copy Number Variation analysis (CNV) on either an Exome or Genome Platform. It covers 2 genes associated with cystinuria.
Limitations
The Cystinuria Panel does not include non-genetic causes of cystine stones and may not detect all genetic variants related to cystinuria. Variants in regions not covered by the selected platform (Exome or Genome) may not be detected. Interpretation depends on the quality and completeness of clinical information provided.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided