Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC34A1 gene for Fanconi renotubular syndrome type 2

PreTest Information

Clinical History of Patient who is going for SLC34A1 Gene Fanconi renotubular syndrome type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC34A1 Gene Fanconi renotubular syndrome type 2 NGS Genetic DNA Test gene SLC34A1

Detail Description

SLC34A1 Gene Fanconi Renotubular Syndrome Type 2 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis - DNA Labs India

Fanconi Renotubular Syndrome Type 2 is a rare genetic disorder that affects the kidneys. It is caused by mutations in the SLC34A1 gene. The disorder is characterized by the inability of the kidneys to reabsorb certain molecules, leading to excessive loss of nutrients and minerals in urine. This can result in various symptoms and complications.

Symptoms of Fanconi Renotubular Syndrome Type 2

The symptoms of Fanconi Renotubular Syndrome Type 2 usually appear in infancy or early childhood. The most common symptoms include:

• Polyuria (excessive urination)
• Polydipsia (excessive thirst)
• Growth retardation
• Bone deformities
• Rickets
• Hypokalemia (low potassium levels)
• Hypophosphatemia (low phosphate levels)
• Hypouricemia (low uric acid levels)

Diagnosis of Fanconi Renotubular Syndrome Type 2

The diagnosis of Fanconi Renotubular Syndrome Type 2 usually involves a combination of clinical evaluation, laboratory tests, and genetic testing. Laboratory tests may include urine and blood tests to measure the levels of various nutrients and minerals. Genetic testing can confirm the presence of mutations in the SLC34A1 gene.

NGS Genetic DNA Test for SLC34A1 Gene Fanconi Renotubular Syndrome Type 2

DNA Labs India offers NGS Genetic DNA Test for SLC34A1 Gene Fanconi Renotubular Syndrome Type 2. This test uses next-generation sequencing (NGS) technology to analyze the entire SLC34A1 gene for mutations. The test is highly sensitive and specific, and can detect even the rarest mutations. The test is priced at INR:20000.

Conclusion

Fanconi Renotubular Syndrome Type 2 is a rare genetic disorder that affects the kidneys. It can cause various symptoms and complications. The disorder is caused by mutations in the SLC34A1 gene. DNA Labs India offers NGS Genetic DNA Test for SLC34A1 Gene Fanconi Renotubular Syndrome Type 2 at a cost of INR:20000. The test is highly sensitive and specific, and can detect even the rarest mutations.

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 SLC34A1 Gene Fanconi renotubular syndrome type 2 NGS Genetic DNA Test