Comprehensive Nephrology Panel Overview
Kidney disease is a silent yet devastating global health crisis, with approximately 1 million people dying each year due to untreated kidney failure. Early detection and personalized care are crucial in combating this issue, offering a chance to significantly improve patient outcomes. Our Comprehensive Nephrology Panel is designed to address this need by providing an in-depth analysis of genes associated with major kidney-related disorders. Through advanced sequencing technologies, we can identify and interpret genetic variants that give valuable insights into kidney conditions, enabling healthcare providers to offer more precise and personalized care.
The Comprehensive Nephrology Panel targets a wide range of kidney-related disorders by analyzing specific genes known to influence these conditions. The genetic information gathered allows for a deeper understanding of the molecular mechanisms underlying kidney diseases, from hereditary disorders like polycystic kidney disease (PKD) to conditions such as nephrotic syndrome and Alport syndrome.
| Alport Syndrome | Nephrotic syndrome |
| Atypical hemolytic uremic syndrome panel | Polycystic kidney |
| Bartter Syndrome panel | Pseudohypoaldosteronism |
| Focal Glomerulonephrosis | Urea cycle disorder |
| Meckel syndrome | Congenital Adrenal Hyperplasia |
| Bartter Syndrome panel | Pseudohypoaldosteronism |
| Nephronophthisis |
Individual conditions are also offered
Clinical Utility
- Accurate Diagnosis: Identifies specific genetic variants associated with kidney conditions for precise diagnosis.
- Risk Assessment and Prognosis: Detects genetic variants linked to increased risk, enabling early identification and personalized monitoring.
- Family Screening and Genetic Counseling: Facilitates screening of family members for risk assessment and enables informed family planning decisions.
- Research and Advancements: Contributes to ongoing research on the genetic basis of kidney related diseases, leading to new discoveries and advancements.
- Personalized Care: Allows tailored interventions and preventive measures based on individual genetic profiles.
- Improved Patient Outcomes: Enhances patient care through precise diagnoses and proactive risk management.
When to Consider Nephrology Panel
The Comprehensive Nephrology Panel should be considered in the following scenarios:
- Family History of Kidney Disease: Individuals with a family history of kidney disorders, such as PKD or Alport syndrome, should consider genetic testing to assess their own risk and take preventive measures.
- Unexplained Kidney Dysfunction: If a patient presents with symptoms of kidney disease that cannot be explained by traditional diagnostic methods, genetic testing may uncover underlying genetic causes.
- Young Patients with Kidney Issues: Pediatric patients with early signs of kidney dysfunction may benefit from genetic testing to identify congenital or hereditary conditions.
- Patients with Chronic Kidney Disease (CKD): Those diagnosed with CKD may use the panel to understand the genetic factors contributing to their condition and to guide treatment decisions.
- Individuals Planning a Family: Couples with a history of kidney disease may opt for genetic testing to assess the risk of passing on kidney disorders to their children.
MapmyGenome Offerings
MapmyGenome’s Comprehensive Nephrology Panel offers a comprehensive suite of genetic tests tailored to meet the needs of individuals and healthcare providers:
- Targeted Analysis of Kidney-Related Genes: Our panel covers a wide range of genetic markers associated with kidney disorders, ensuring that the most relevant variants are analyzed.
- Advanced Sequencing Technologies: We utilize state-of-the-art sequencing methods to provide accurate and reliable genetic data.
- Personalized Reports: Each patient receives a detailed report that includes their genetic findings, risk assessments, and personalized recommendations for care.
- Genetic Counseling Services: Our team of genetic counselors is available to help patients and their families understand the results and make informed decisions about their health.
- Ongoing Research Contributions: By participating in our genetic testing program, patients contribute to research efforts aimed at understanding the genetic basis of kidney diseases and improving treatment options.
Test specification
| Technique | Coverage | Variant types | TAT | Sample requirements |
|---|---|---|---|---|
| NGS | 150 - 180X | SNP | 3 - 4 weeks | 2 ml EDTA Blood / 2 ug DNA |