SLC34A3 Gene Hypophosphatemic Rickets with Hypercalciuria NGS Genetic DNA Test
The SLC34A3 Gene Hypophosphatemic Rickets with Hypercalciuria NGS Genetic DNA Test is a cutting-edge genetic test that plays a vital role in diagnosing hypophosphatemic rickets, a rare genetic disorder characterized by low phosphate levels in the body. Utilizing next-generation sequencing (NGS) technology, this test allows for precise identification of mutations in the SLC34A3 gene, which is responsible for phosphate transport in the kidneys.
What the Test Measures
This test specifically detects mutations in the SLC34A3 gene that may lead to hypophosphatemic rickets with hypercalciuria. By analyzing the genetic makeup of the patient, healthcare providers can understand the underlying causes of the disorder and tailor appropriate treatment plans.
Who Should Consider This Test
Individuals exhibiting symptoms such as bone pain, deformities, or growth retardation should consider this test. Additionally, those with a family history of hypophosphatemic rickets or related disorders may be at increased risk and should consult with their healthcare provider about testing.
Benefits of Taking the Test
- Accurate diagnosis of hypophosphatemic rickets.
- Guides treatment options and management strategies.
- Provides valuable information for family planning through genetic counseling.
- Helps in understanding the risk of recurrence in future pregnancies.
Understanding Your Results
Once the test is completed, results will be interpreted by genetic specialists. A positive result indicates the presence of a mutation in the SLC34A3 gene, confirming a diagnosis of hypophosphatemic rickets. A negative result, while reassuring, does not entirely rule out the disorder, and further clinical evaluation may be necessary.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
SLC34A3 Gene Hypophosphatemic Rickets with Hypercalciuria NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book the Test
To schedule your SLC34A3 Gene Hypophosphatemic Rickets with Hypercalciuria NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with any questions and help you through the booking process.
Turnaround Time: 3 to 4 weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-Test Instructions: A clinical history of the patient is required, along with a genetic counseling session to draw a pedigree chart of family members affected by the SLC34A3 gene.
This test is pivotal in the fields of Dermatology, Genetics, and Osteology, providing essential insights for effective patient management and care.