Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC7A9 gene for Cystinuria

PreTest Information

Clinical History of Patient who is going for SLC7A9 Gene Cystinuria NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC7A9 Gene Cystinuria NGS Genetic DNA Test gene SLC7A9

Detail Description

SLC7A9 Gene Cystinuria NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Are you experiencing recurrent kidney stones or urinary tract infections? Do you have a family history of kidney disease? If yes, you may have cystinuria, a genetic disorder that affects the transport of cystine in the kidneys and urinary tract.

The SLC7A9 gene, located on chromosome 19, encodes a protein called b0,+AT, which is essential for the reabsorption of cystine in the kidneys. Mutations in this gene can lead to cystinuria, an autosomal recessive disorder that affects approximately 1 in 7,000 people worldwide.

Symptoms of Cystinuria

The hallmark of cystinuria is the formation of kidney stones, which can cause severe pain, blood in the urine, and obstruction of the urinary tract. The stones are composed of cystine, an amino acid that is insoluble in urine at normal pH levels. Other symptoms of cystinuria may include:

• Recurrent urinary tract infections
• Difficulty passing urine
• Foul-smelling urine
• Abdominal pain
• Nausea and vomiting

Diagnosis of Cystinuria

If you have symptoms of cystinuria or a family history of the condition, your doctor may recommend genetic testing to confirm the diagnosis. The most common method of testing is Next-Generation Sequencing (NGS), which analyzes the DNA sequence of the SLC7A9 gene to identify any mutations that may be causing the disorder.

NGS is a highly sensitive and specific test that can detect even rare genetic variants with a high degree of accuracy. It is a non-invasive procedure that requires only a small blood or saliva sample from the patient.

Cost of Cystinuria Genetic Testing in India

The cost of NGS-based genetic testing for cystinuria in India can range from INR 20,000 to INR 50,000, depending on the laboratory and the specific test ordered. Some labs may also offer targeted gene panels or whole exome sequencing (WES) that can identify mutations in multiple genes associated with kidney disease.

However, it is important to note that genetic testing is not always covered by insurance, and patients may need to pay out-of-pocket for the test. Some labs may offer financial assistance programs or payment plans to help patients afford the cost of testing.

Conclusion

Cystinuria is a rare genetic disorder that can cause recurrent kidney stones and other urinary tract symptoms. If you suspect that you may have cystinuria or have a family history of the condition, consider speaking to your doctor about genetic testing. NGS-based testing for the SLC7A9 gene is a reliable and accurate method of diagnosis that can help guide treatment and management of the condition.

At DNA Labs India, we offer state-of-the-art genetic testing services for cystinuria and other genetic disorders. Our team of expert genetic counselors and scientists can help you navigate the testing process and provide you with the information you need to make informed decisions about your health. Contact us today to learn more about our services and how we can help you.