Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC34A1 gene for Nephrolithiasis/osteoporosis, hypophosphatemic, type 1

PreTest Information

Clinical History of Patient who is going for SLC34A1 Gene Nephrolithiasis/osteoporosis, hypophosphatemic, type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC34A1 Gene Nephrolithiasis/osteoporosis, hypophosphatemic, type 1 NGS Genetic DNA Test gene SLC34A1

Detail Description

SLC34A1 Gene Nephrolithiasis/Osteoporosis: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

SLC34A1 is a gene responsible for the formation of a protein called sodium-phosphate cotransporter 2a (NPT2a), which plays a crucial role in the absorption of phosphate by the kidneys and bones. Mutations in the SLC34A1 gene can lead to a rare inherited disorder known as hypophosphatemic nephrolithiasis/osteoporosis, type 1 (HHRH1), which is characterized by low levels of phosphate in the blood, kidney stones, and weak bones.

Symptoms of HHRH1

The symptoms of HHRH1 usually appear in childhood or adolescence and include:

• Recurrent kidney stones
• Delayed growth and short stature
• Bone pain and fractures
• Muscle weakness
• Dental problems

Diagnosis of HHRH1

HHRH1 is diagnosed based on the presence of symptoms and a blood test that shows low levels of phosphate and high levels of a hormone called fibroblast growth factor 23 (FGF23), which is responsible for regulating phosphate levels in the body. A genetic test that analyzes the SLC34A1 gene can confirm the diagnosis.

NGS Genetic DNA Test for HHRH1

Next-generation sequencing (NGS) is a cutting-edge technology that allows for the analysis of multiple genes simultaneously, making it an efficient and cost-effective tool for genetic testing. The NGS genetic DNA test for HHRH1 analyzes the SLC34A1 gene and can detect mutations that cause the disorder.

Cost of NGS Genetic DNA Test for HHRH1

The cost of the NGS genetic DNA test for HHRH1 in India is approximately INR 20,000.

Conclusion

HHRH1 is a rare inherited disorder caused by mutations in the SLC34A1 gene, which lead to low levels of phosphate in the blood, kidney stones, and weak bones. The symptoms usually appear in childhood or adolescence and can be diagnosed through a blood test and genetic testing. The NGS genetic DNA test for HHRH1 is a cost-effective and efficient tool for detecting mutations in the SLC34A1 gene.

It is important to consult a genetic counselor or healthcare provider if you suspect that you or your child may have HHRH1 or any other genetic disorder.

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 Nephrolithiasis/osteoporosis, hypophosphatemic, type 1 NGS Genetic DNA Test