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PTH1R Gene Chondrodysplasia Blomstrand Type Genetic Test Cost

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

-21%

The PTH1R Gene Chondrodysplasia Blomstrand Type Genetic Test is a specialized diagnostic tool designed to identify mutations in the PTH1R gene, which are responsible for Chondrodysplasia Blomstrand Type (BOCD), a rare autosomal recessive skeletal dysplasia. This condition is characterized by advanced bone age, short limbs, and other skeletal abnormalities evident from prenatal development or at birth. The test is crucial for early diagnosis, allowing for appropriate management and counseling for affected families.

Conducted at DNA Labs UAE, a leading facility in genetic diagnostics, the test involves collecting a DNA sample, typically through a blood draw, and examining the PTH1R gene for specific mutations known to cause BOCD. The accuracy and reliability of the test make it a valuable resource for clinicians and genetic counselors in the diagnosis and management of this rare condition.

The cost of the PTH1R Gene Chondrodysplasia Blomstrand Type Genetic Test at DNA Labs UAE is 4400 AED. This price reflects the comprehensive analysis and the specialized expertise required to interpret the results accurately. Given the complexity of genetic testing and the rare nature of BOCD, this test is a critical tool in providing affected individuals and their families with the necessary information to understand their condition and make informed health decisions.

Home  Sample collection service available

  • 100% accuaret Test Results
  • Ranked as Most trusted Genetic DNA Lab
  • This test is not intended for medical diagnosis or treatment
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PTH1R Gene Chondrodysplasia Blomstrand type Genetic Test

Welcome to DNA Labs UAE, where we offer the PTH1R Gene Chondrodysplasia Blomstrand type Genetic Test. This test can help diagnose a rare genetic disorder called chondrodysplasia, Blomstrand type. By analyzing the DNA sequence of the PTH1R gene, our NGS (Next-Generation Sequencing) technology can identify mutations or variations that may be responsible for the condition.

Test Details

Chondrodysplasia, Blomstrand type is characterized by severe skeletal abnormalities, including short stature, bowing of the long bones, and abnormal development of the skull and facial bones. Our NGS genetic testing can provide a comprehensive evaluation of a person’s genetic makeup, analyzing multiple genes simultaneously.

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: Dysmorphology
  • Doctor: Pediatrics
  • Test Department: Genetics

Pre Test Information

Prior to undergoing the PTH1R Gene Chondrodysplasia Blomstrand type Genetic Test, it is important to provide the clinical history of the patient. Additionally, a Genetic Counselling session will be conducted to draw a pedigree chart of family members affected with the disorder.

Benefits and Uses

NGS genetic testing can not only help diagnose chondrodysplasia, Blomstrand type, but also provide valuable information for treatment and management of the condition. It can be used for carrier testing and prenatal diagnosis in families with a known history of the disorder. However, it is recommended to consult with a healthcare professional or genetic counselor before undergoing any genetic testing to fully understand the benefits, limitations, and potential implications of the test results.

Test Name PTH1R Gene Chondrodysplasia Blomstrand type 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 Dysmorphology
Doctor Pediatrics
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for PTH1R Gene Chondrodysplasia, Blomstrand type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PTH1R Gene Chondrodysplasia, Blomstrand type NGS Genetic DNA Test gene PTH1R
Test Details

The PTH1R gene is associated with a rare genetic disorder called chondrodysplasia, Blomstrand type. This condition is characterized by severe skeletal abnormalities, including short stature, bowing of the long bones, and abnormal development of the skull and facial bones.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that can analyze multiple genes simultaneously, providing a comprehensive evaluation of a person’s genetic makeup. In the case of chondrodysplasia, Blomstrand type, NGS testing can be used to identify mutations or variations in the PTH1R gene that may be responsible for the disorder.

By analyzing the DNA sequence of the PTH1R gene, NGS testing can help diagnose chondrodysplasia, Blomstrand type and provide valuable information for treatment and management of the condition. It can also be used for carrier testing and prenatal diagnosis in families with a known history of the disorder.

It is important to consult with a healthcare professional or a genetic counselor before undergoing any genetic testing to understand the benefits, limitations, and potential implications of the test results.

SKU: TEST-4047 Category:

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