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ENPP1 Gene Hypophosphatemic rickets autosomal recessive type 2 Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The ENPP1 gene hypophosphatemic rickets autosomal recessive type 2 genetic test is a diagnostic procedure offered by DNA Labs UAE, aimed at identifying mutations in the ENPP1 gene, which are known to cause autosomal recessive hypophosphatemic rickets type 2 (ARHR2). This condition is characterized by low levels of phosphate in the blood due to its excessive excretion in the urine, leading to weak and soft bones, a condition known as rickets in children and osteomalacia in adults. The ENPP1 gene plays a crucial role in bone mineralization and regulation of phosphate levels in the body.

The test involves collecting a DNA sample, typically through a blood draw or a cheek swab, which is then analyzed in the laboratory for specific genetic mutations in the ENPP1 gene. Identifying these mutations can confirm a diagnosis of ARHR2, which is essential for managing the condition effectively. Early diagnosis can lead to interventions that may include dietary management, phosphate supplements, and vitamin D therapy to improve bone health and prevent complications.

The cost of the ENPP1 gene hypophosphatemic rickets autosomal recessive type 2 genetic test at DNA Labs UAE is 4400 AED. This investment in genetic testing can provide crucial information for affected individuals and their families, guiding treatment plans and helping to predict the course of the disease.

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ENPP1 Gene Hypophosphatemic Rickets Autosomal Recessive Type 2 Genetic Test

Test Name: ENPP1 Gene Hypophosphatemic Rickets Autosomal Recessive Type 2 Genetic Test

Components

  • Price: 4400.0 AED
  • Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
  • Report Delivery: 3 to 4 Weeks
  • Method: NGS Technology
  • Test type: Osteology Dermatology Immunology Disorders
  • Doctor: Dermatologist
  • Test Department: Genetics

Pre Test Information

Clinical History of Patient who is going for ENPP1 Gene Hypophosphatemic Rickets, Autosomal Recessive Type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ENPP1 Gene Hypophosphatemic Rickets, Autosomal Recessive Type 2 NGS Genetic DNA Test gene ENPP1.

Test Details

The ENPP1 gene is associated with a condition called hypophosphatemic rickets, autosomal recessive type 2. This is a genetic disorder characterized by low levels of phosphate in the blood, which leads to impaired bone mineralization and skeletal abnormalities.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of hypophosphatemic rickets, autosomal recessive type 2, NGS genetic testing can be used to identify mutations or variants in the ENPP1 gene that may be responsible for the condition. By identifying these genetic changes, NGS testing can help confirm a diagnosis of hypophosphatemic rickets and provide information about the specific genetic cause.

This information can be useful for understanding the underlying mechanisms of the disease, predicting disease progression, and guiding treatment decisions. It’s important to note that NGS testing is a complex process that requires specialized equipment and expertise. It is typically performed in a clinical genetics laboratory by trained professionals. The results of the test are interpreted by geneticists or genetic counselors, who can provide further information and guidance based on the specific genetic findings.

Test Name ENPP1 Gene Hypophosphatemic rickets autosomal recessive type 2 Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Osteology Dermatology Immunology Disorders
Doctor Dermatologist
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for ENPP1 Gene Hypophosphatemic rickets, autosomal recessive type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ENPP1 Gene Hypophosphatemic rickets, autosomal recessive type 2 NGS Genetic DNA Test gene ENPP1
Test Details

The ENPP1 gene is associated with a condition called hypophosphatemic rickets, autosomal recessive type 2. This is a genetic disorder characterized by low levels of phosphate in the blood, which leads to impaired bone mineralization and skeletal abnormalities.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of hypophosphatemic rickets, autosomal recessive type 2, NGS genetic testing can be used to identify mutations or variants in the ENPP1 gene that may be responsible for the condition.

By identifying these genetic changes, NGS testing can help confirm a diagnosis of hypophosphatemic rickets and provide information about the specific genetic cause. This information can be useful for understanding the underlying mechanisms of the disease, predicting disease progression, and guiding treatment decisions.

It’s important to note that NGS testing is a complex process that requires specialized equipment and expertise. It is typically performed in a clinical genetics laboratory by trained professionals. The results of the test are interpreted by geneticists or genetic counselors, who can provide further information and guidance based on the specific genetic findings.