Nephro Genetics

Comprehensive gene panels for inherited renal disorders

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What is Nephro Genetics Testing?

Genetic kidney disorders affect 5-15% of the adult population, with around 20% of chronic kidney disease (CKD) cases reporting the involvement of inherited genetic factors. In children, genetic kidney disorders are even more prevalent, with an occurrence rate of 21 to 55 cases per million. Nephro genetics testing by MedGenome is a comprehensive genetic testing for kidney disease designed to identify the underlying genetic causes of various renal disorders. By providing an early and accurate diagnosis, this genetic testing panel helps clinicians understand disease progression and create personalised management plans.

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Common Genetic Renal Disorders

Renal Cystic & Interstitial Diseases:
The cystic kidney diseases are also known as renal cystic ciliopathies. Some of these are:
• Autosomal Dominant Polycystic Kidney Disease (ADPKD)
• Autosomal Recessive Polycystic Kidney Disease (ARPKD)
• Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD)
Renal Tubular Disease:
The following are classified under genetic renal tubular disorders:
• Bartter Syndrome
• Gitelman Syndrome
• Pseudohypoaldosteronism
• dRTA
Renal Glomerular Disorders:
Some genetic glomerular diseases are:
• Steroid-Resistant Nephrotic Syndrome (SRNS)
• Familial Atypical HUS
• Alport Syndrome
• Fibronectin Glomerulopathy
Nephrolithiasis:
The heritability of renal stone formation (nephrolithiasis) has long been recognized. The advent of the genomic era has greatly increased the potential to define its underlying genetic defects. The following are the diseases:
• Primary Hyperoxaluria
• Cystinuria
• Hereditary Xanthinuri
• Dent Disease
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT):
CAKUT account for approximately 50% of children with end-stage kidney disease. They occur in about 3 to 6 per 1,000 live births and constitute 20–30% of all anomalies identified in the neonatal period. They may present as an isolated feature or as part of clinical syndromes. Single-gene mutations in many different genes may cause a wide phenotypic spectrum of CAKUT and these are listed below:
• Renal Agenesis (RA)
• Renal Hypodysplasia (RHD)
• Multicystic Renal Dysplasia (MRD)
• Vesicoureteral Reflux (VUR 2)

Clinical Indications of Nephro Genetics Testing

Patients diagnosed with cystic kidney diseases, tubulopathies or monogenic glomerulopathies.
Individuals with a positive family history of kidney disease.
Cases presenting with syndromic features, including extra-renal manifestations.
Congenital anomalies of the kidney and urinary tract.
Early-onset kidney disease with unknown aetiology (typically <25–30 years of age).
Persistent haematuria or proteinuria without a definitive diagnosis.
Interstitial nephropathy or chronic kidney disease of unclear origin.
Patients exhibiting an unusual or atypical disease course.
Situations where genetic results may inform or guide therapeutic decisions.
Individuals from high-risk populations for hereditary kidney disorders.

Specifications

Next Generation Sequencing: Using genomic DNA extracted from blood, the coding regions of all the genes are captured and sequenced simultaneously by NGS technology on an Illumina platform. The sequence data that is generated is aligned and analysed for sequence variants.

Multiplex Ligation-dependent Probe Amplification: Employs probe pairs to identify specific genomic regions, for detecting exon-level copy number deletions and duplications.

Microarrays: Detect single nucleotide polymorphisms (SNPs) by hybridizing fragmented single-stranded DNA to nucleotide probe arrays, revealing genotypes and copy number variations through comparison with a reference.

Sample Type: Cardiac blood in EDTA (purple top), product of conception (POC), cord tissue or umbilical cord, amniotic fluid (AF), placenta, cord blood in EDTA (purple top), direct DNA, fetal DNA, chorionic villus sample (CVS), and peripheral blood in EDTA (purple top).

MedGenome's Genetic Testing Panels for Renal Disorders

Renal Disorders Genetic Testing

MGM106 - Polycystic Kidney Disease gene panel – Polycystic Kidney Disease (PKD)
MGM104 - Bartter Syndrome gene panel – Bartter Syndrome
MGM103 - Alport Syndrome gene panel – Alport Syndrome
MGM153 - Joubert Syndrome gene panel – Joubert Syndrome
MGM308 - Hemolytic uremic syndrome (CFH, CFHR1, CFHR2, CFHR3 & CFHR5) deletion duplication analysis - Hemolytic Uremic Syndrome (HUS)
MGM483 - Nephrotic Syndrome gene panel – Nephrotic Syndrome
MGM107 - Primary Hyperoxaluria gene panel – Primary Hyperoxaluria
MGM244 - Bardet-Biedl Syndrome gene panel – Bardet-Biedl Syndrome

Advanced Genetic Testing for Renal Disorders

MGM326 - Trio Exome Sequencing – Comprehensive analysis for multiple disorders, including rare and undiagnosed genetic kidney disorders
MGM2572 - ExomeMAX – Comprehensive analysis of a wide range of all genetic conditions
MGM2741 - KaryoTrack – A Genome-Wide Test that detects all chromosomal abnormalities, including those associated with congenital anomalies of the kidney and urinary tract (CAKUT)
MGM2731 - TRIO ExomeMAX (Enhanced Whole Exome +Mitochondrial Genome Sequencing)

Key Highlights of MedGenome's Nephro Genetics Testing

High Accuracy

These genetic tests for kidney disease provide high-resolution detection of single-nucleotide variants and copy number variants with exceptional precision.

Custom Test Panels

Availability of specialised gene panels for various renal disorders like PKD, Meckel-Gruber Syndrome, and Joubert Syndrome.

High Sensitivity and Specificity

This genetic testing for kidney disease is designed to detect a wide range of genetic variants with high sensitivity and specificity, ensuring accurate diagnosis.

Extensive Experience

With over 500,000 exomes and genomes analysed, MedGenome Labs has unmatched expertise in genetic testing.

Trusted by Healthcare Providers

MedGenome is trusted and recommended by 24,000+ clinicians and 8,000+ hospitals across India and South Asia.

What is Nephro Genetics Testing?

Nephro-genetics testing is a type of genetic testing for kidney disease and renal disorders. This test looks at a person’s DNA to find inherited changes that can cause kidney problems. It helps doctors confirm a diagnosis, understand how the disease may progress, and decide on the best treatment. It is especially helpful if there is a family history of kidney disease. Genetic counselling is also offered to help explain the test results. Genetic renal disorders account for a significant portion of kidney disorders worldwide. Studies show that nearly 5-15% of the adult population and up to 20% of chronic kidney disease (CKD) cases may have a genetic basis. Among children, the prevalence is higher, ranging from 21 to 55 cases per million in age-matched populations. Countries with high rates of consanguineous marriages have reported increased incidences of genetic renal diseases, particularly autosomal recessive conditions like end-stage renal disease (ESRD). Such data highlight the need for comprehensive genetic testing for kidney disease to ensure early detection and intervention.

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What Are the Common Genetic Renal Disorders?

Several kidney conditions are linked to genetic variants. Below are some of the most common disorders that can be identified through genetic testing for kidney diseases:

Renal Cystic and Interstitial Diseases: Conditions like polycystic kidney disease (PKD) cause fluid-filled cysts that can lead to kidney failure.
Renal Tubular Diseases: Disorders such as Bartter syndrome disrupt electrolyte balance, causing low potassium and dehydration.
Renal Glomerular Disorders: Nephrotic syndrome damages the kidney’s filters (glomeruli), leading to protein loss and swelling.
Nephrolithiasis (Kidney Stones): Inherited conditions like primary hyperoxaluria cause recurring kidney stones and potential kidney damage.
Congenital Kidney and Urinary Tract Abnormalities (CAKUT): Birth defects like hydronephrosis that can lead to kidney damage if untreated.

Why Should Patients Be Tested for Genetic Renal Disorders?

Who Should Get Tested for Genetic Renal Disorders?

Genetic testing for kidney disease is recommended for individuals showing the following symptoms:

- Persistent lower abdominal or loin pain.
- Frequent urinary tract infections.
- Blood in the urine (hematuria).
- Signs of kidney dysfunction such as high creatinine levels or reduced urine output.

In addition, one should consider Nephro Genetic Testing in the following circumstances:

Abnormal Preliminary Test Results: Tests indicating potential kidney problems warrant further genetic investigation.
Family History of Kidney Disease: If you have a close relative with kidney issues, genetic testing can help assess your risk.
Unexplained Kidney Symptoms: Even without a family history, those experiencing unexplained kidney-related symptoms can consider testing.
Prenatal Testing: Families with a known history of genetic kidney conditions may benefit from prenatal diagnosis to understand potential risks for the unborn child.

What is the Role of Next-Generation Sequencing (NGS) in Nephro Genetics Testing?

Why Choose MedGenome for Nephro Genetics Testing?