Defects of Renal Handling of Amino Acids Gene Panel
Overview
The Defects of Renal Handling of Amino Acids Gene Panel is a molecular genetic test designed to identify pathogenic variants in genes involved in the renal reabsorption, transport, and handling of amino acids. Genetic defects affecting these pathways can lead to aminoaciduria, abnormal urinary amino-acid excretion, electrolyte disturbances, kidney stones, growth abnormalities, or systemic metabolic manifestations.
What Does the Panel Detect?
- Genetic causes of renal aminoaciduria
- Defects in amino-acid transporters and renal tubular reabsorption pathways
- Inherited disorders affecting renal handling of cystine and other amino acids
- Variants associated with conditions such as cystinuria and Hartnup disease
- Other rare inherited renal tubular transport disorders
Why Is This Test Done?
The panel may be considered in individuals with:
- Persistent or unexplained aminoaciduria
- Recurrent kidney stones, particularly cystine stones
- Suspected inherited renal tubular disorders
- Abnormal urinary amino-acid profiles
- Unexplained electrolyte or metabolic abnormalities
- A family history of hereditary renal or metabolic disease
- Early-onset or unexplained kidney-related manifestations
Sample Required
Usually performed using a blood sample for genomic DNA analysis. Sample requirements may vary according to the laboratory protocol.
Test Method
Next-generation sequencing (NGS) with analysis of relevant genes; deletion/duplication analysis may be included where applicable.
Clinical Significance
Identification of a disease-causing genetic variant can help establish a molecular diagnosis, guide clinical management, support genetic counselling, and facilitate evaluation of at-risk family members.
Important Note
A negative result does not completely exclude a genetic disorder. Results should be interpreted along with clinical findings, biochemical investigations, family history, and genetic counselling where appropriate.
Recommended For
Patients with suspected inherited disorders of renal amino-acid transport or unexplained aminoaciduria, especially when biochemical and clinical findings suggest a hereditary renal tubular defect.
