Distal Renal Tubular Acidosis Panel
Use
This test is designed for individuals who have a clinical or suspected diagnosis of distal renal tubular acidosis (dRTA), a condition characterized by the kidneys' inability to acidify urine, which can lead to metabolic acidosis. dRTA often presents with symptom onset in infancy or childhood, leading to potential growth retardation and kidney stones due to impaired acid-base balance. Early diagnosis can be crucial for management and treatment to prevent long-term complications.
Special Instructions
Not provided.
Limitations
While this panel is comprehensive in testing for variants within four genes related to distal renal tubular acidosis, it does not cover all possible genetic variations or external factors contributing to the disorder. CNV (copy number variation) analysis is included; however, technical limitations of sequencing may impact detection. Conditions with overlapping symptoms but different genetic causes may not be identified. A negative result does not rule out the disease due to potential undiscovered genes or mutations.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided