Short Description

NGS genetic DNA test detecets for variant and mutation detection in PKHD1 gene for Polycystic kidney disease type 1, autosomal recessive

PreTest Information

Clinical History of Patient who is going for PKHD1 Gene Polycystic kidney disease type 1, autosomal recessive NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PKHD1 Gene Polycystic kidney disease type 1, autosomal recessive NGS Genetic DNA Test gene PKHD1

Detail Description

Understanding PKHD1 Gene Polycystic Kidney Disease Type 1: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Polycystic Kidney Disease (PKD) is a genetic disorder that affects the kidneys, leading to the development of multiple cysts in the organs. PKD can be classified into two types: autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD).

In this blog post, we will focus on ARPKD, which is caused by mutations in the PKHD1 gene. This type of PKD is rare, affecting approximately 1 in 20,000 individuals worldwide. ARPKD is an autosomal recessive disorder, meaning that both parents must pass on the mutated gene for a child to develop the disease.

Symptoms of PKHD1 Gene Polycystic Kidney Disease Type 1

ARPKD is typically diagnosed in infancy or early childhood, with symptoms appearing shortly after birth. The most common symptoms of ARPKD include:

• Enlarged kidneys
• High blood pressure
• Liver enlargement
• Increased urine output
• Difficulty breathing
• Poor weight gain

As the disease progresses, individuals may experience kidney failure, leading to the need for dialysis or kidney transplantation.

Diagnosis of PKHD1 Gene Polycystic Kidney Disease Type 1

ARPKD can be diagnosed prenatally through ultrasound or after birth through imaging studies such as ultrasound, CT scan, or MRI. Genetic testing can also be used to confirm a diagnosis and identify the specific mutation in the PKHD1 gene.

NGS Genetic DNA Test Cost for PKHD1 Gene Polycystic Kidney Disease Type 1

NGS (Next-Generation Sequencing) Genetic DNA testing is a type of genetic testing that can detect mutations in multiple genes simultaneously. This type of testing is becoming increasingly common, as it can provide more comprehensive results than traditional genetic testing methods.

The cost of an NGS Genetic DNA test for PKHD1 Gene Polycystic Kidney Disease Type 1 can vary depending on the specific test and the laboratory performing the test. On average, the cost of this type of test in India is around INR 20,000.

Conclusion

PKHD1 Gene Polycystic Kidney Disease Type 1 is a rare genetic disorder that can have serious consequences for affected individuals. Early diagnosis and treatment are important for managing the disease and preventing complications. If you or a loved one is experiencing symptoms of ARPKD, speak with a healthcare provider about the appropriate diagnostic tests and treatment options.

At DNA Labs India, we offer a range of genetic testing services, including NGS Genetic DNA testing for PKHD1 Gene Polycystic Kidney Disease Type 1. Our team of experienced professionals is committed to providing accurate and reliable results to help individuals make informed decisions about their health. Contact us today to learn more about our services.

Note: This blog post is for informational purposes only and should not be used as a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare providers with any questions you may have regarding a medical condition.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for PKHD1 Gene Polycystic kidney disease type 1, autosomal recessive NGS Genetic DNA Test