Short Description

NGS genetic DNA test detecets for variant and mutation detection in CYP27B1 gene for Rickets, vitamin D dependent, type 1

PreTest Information

Clinical History of Patient who is going for CYP27B1 Gene Rickets, vitamin D dependent, type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CYP27B1 Gene Rickets, vitamin D dependent, type 1 NGS Genetic DNA Test gene CYP27B1

Detail Description

CYP27B1 Gene Rickets: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Rickets is a condition that affects the development of bones in children. It is usually caused by a deficiency of vitamin D, which is essential for the body to absorb calcium and promote bone growth. However, in some cases, rickets can be caused by a genetic mutation that affects the way the body processes vitamin D. One such mutation is found in the CYP27B1 gene, which is responsible for producing an enzyme that converts vitamin D into an active form that can be used by the body.

Symptoms of CYP27B1 Gene Rickets

The symptoms of CYP27B1 gene rickets are similar to those of other types of rickets, but they may be more severe and resistant to treatment. These symptoms may include:

• Bowed legs or knock knees
• Delayed growth and development
• Softening and weakening of bones
• Muscle weakness
• Pain and tenderness in the bones

Diagnosis of CYP27B1 Gene Rickets

CYP27B1 gene rickets can be diagnosed through a combination of physical examination, medical history, and laboratory tests. A doctor may perform a blood test to measure the levels of vitamin D and calcium in the body. X-rays may also be taken to look for signs of bone abnormalities. In some cases, a genetic test may be recommended to confirm the presence of the CYP27B1 gene mutation.

NGS Genetic DNA Test Cost for CYP27B1 Gene Rickets

NGS (Next Generation Sequencing) genetic DNA testing is a powerful tool that can be used to identify mutations in specific genes, including the CYP27B1 gene. This test can be used to confirm a diagnosis of CYP27B1 gene rickets and to identify other potential genetic causes of the condition. The cost of NGS genetic DNA testing for CYP27B1 gene rickets in India is typically around INR 20,000.

Conclusion

CYP27B1 gene rickets is a rare but potentially serious condition that can affect the development of bones in children. Symptoms may include bowed legs or knock knees, delayed growth and development, and muscle weakness. Diagnosis may involve a combination of physical examination, medical history, and laboratory tests, including genetic testing. NGS genetic DNA testing is a powerful tool that can be used to confirm a diagnosis of CYP27B1 gene rickets and to identify other potential genetic causes of the condition.

At DNA Labs India, we offer NGS genetic DNA testing for CYP27B1 gene rickets and other genetic conditions. Our tests are performed using state-of-the-art technology and are designed to provide accurate and reliable results. If you suspect that you or your child may be affected by CYP27B1 gene rickets, contact us today to learn more about our testing services.

Vitamin D-dependent rickets type 1 (VDDR1) is a rare genetic disorder that leads to impaired bone development and mineralization due to a deficiency in active vitamin D. This condition is caused by mutations in the CYP27B1 gene.

The CYP27B1 gene encodes an enzyme called 1-alpha-hydroxylase, which is responsible for converting inactive vitamin D (calcidiol) into its active form (calcitriol). Active vitamin D plays a crucial role in maintaining calcium and phosphorus levels in the blood, which are essential for proper bone mineralization.

Mutations in the CYP27B1 gene result in reduced or absent enzyme activity, leading to an inability to produce sufficient active vitamin D. This deficiency disrupts calcium and phosphorus homeostasis, leading to skeletal abnormalities and the development of rickets.

Next-Generation Sequencing (NGS) is a genetic testing technique that can be used to identify mutations or variations in the CYP27B1 gene associated with vitamin D-dependent rickets type 1. NGS allows for the simultaneous analysis of multiple genes, providing comprehensive genetic information for accurate diagnosis.

If you suspect that you or someone you know might have vitamin D-dependent rickets type 1 or any other genetic disorder, it's important to consult with a pediatrician, endocrinologist, medical geneticist, or healthcare professional with expertise in metabolic and bone disorders. Genetic testing, along with clinical evaluation and specialized testing, can help confirm the diagnosis and guide appropriate management strategies.

As always, seeking accurate information and proper care from medical experts and reliable sources is essential.