Short Description

NGS genetic DNA test detecets for variant and mutation detection in FGF23 gene for Hypophosphatemic rickets, autosomal dominant

PreTest Information

Clinical History of Patient who is going for FGF23 Gene Hypophosphatemic rickets, autosomal dominant NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FGF23 Gene Hypophosphatemic rickets, autosomal dominant NGS Genetic DNA Test gene FGF23

Detail Description

FGF23 Gene Hypophosphatemic Rickets, Autosomal Dominant NGS Genetic DNA Test Cost INR 20000: Symptoms, Diagnosis, and Treatment

FGF23 Gene Hypophosphatemic Rickets is a rare genetic disorder that affects the bone development of an individual. It is caused due to mutations in the FGF23 gene that codes for Fibroblast Growth Factor 23, a protein that regulates the levels of phosphate in the body. This disorder leads to low levels of phosphate in the blood, which affects the bone development and leads to several symptoms.

Symptoms

The symptoms of FGF23 Gene Hypophosphatemic Rickets include:

• Bone pain
• Bowed legs
• Short stature
• Delayed tooth development
• Muscle weakness
• Frequent fractures

These symptoms usually start appearing in childhood and may worsen with age. The severity of the symptoms may vary from person to person, and not all individuals with the mutation may show all the symptoms.

Diagnosis

Diagnosing FGF23 Gene Hypophosphatemic Rickets requires a thorough clinical evaluation of the patient, along with a genetic test to confirm the mutation. The genetic test involves Next-Generation Sequencing (NGS) of the FGF23 gene to identify any mutations that may be causing the disorder. This test is highly accurate and can identify even small mutations that may be missed by traditional genetic tests.

Treatment

There is no cure for FGF23 Gene Hypophosphatemic Rickets, and the treatment is focused on managing the symptoms and preventing complications. The treatment may include:

• Phosphate supplements to increase the levels of phosphate in the blood
• Vitamin D supplements to improve the absorption of phosphate
• Surgery to correct bone deformities
• Physical therapy to improve muscle strength and mobility

NGS Genetic DNA Test Cost

The cost of the NGS Genetic DNA Test for FGF23 Gene Hypophosphatemic Rickets is INR 20000. This test is performed by DNA Labs India, a leading genetic testing laboratory in India that offers a wide range of genetic tests for various disorders. The test is highly accurate and can provide a definitive diagnosis of the disorder, which can help in proper management and treatment.

Conclusion

FGF23 Gene Hypophosphatemic Rickets is a rare genetic disorder that affects the bone development of an individual. It is caused due to mutations in the FGF23 gene and leads to several symptoms such as bone pain, bowed legs, short stature, and muscle weakness. Diagnosing the disorder requires a genetic test, such as NGS, which can identify the mutation with high accuracy. The treatment is focused on managing the symptoms and preventing complications. DNA Labs India offers the NGS Genetic DNA Test for FGF23 Gene Hypophosphatemic Rickets at a cost of INR 20000, which can provide a definitive diagnosis of the disorder.

If you suspect that you or someone you know may have FGF23 Gene Hypophosphatemic Rickets, it is important to consult a healthcare professional and consider getting a genetic test to confirm the diagnosis.

Mutations in the FGF23 gene have been associated with a genetic disorder known as autosomal dominant hypophosphatemic rickets (ADHR). ADHR is a rare inherited condition characterized by low levels of phosphate in the blood, leading to skeletal abnormalities, including rickets, which can result in bone pain, growth impairment, and other complications.