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PTDSS1 Gene Lenz-Majewski Hyperostotic Dwarfism Genetic Test Cost

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

-21%

The PTDSS1 gene Lenz-Majewski Hyperostotic Dwarfism genetic test is a specialized diagnostic tool available at DNA Labs UAE. This test is designed to identify mutations in the PTDSS1 gene, which are responsible for Lenz-Majewski Hyperostotic Dwarfism (LMHD). LMHD is a rare genetic disorder characterized by skeletal dysplasia, delayed intellectual development, and distinct facial features. The condition is inherited in an autosomal dominant pattern, meaning a mutation in just one copy of the gene is sufficient to cause the disorder.

DNA Labs UAE, a leading facility in genetic testing, offers this comprehensive test to individuals suspected of having LMHD or to families seeking genetic counseling. The test involves a detailed analysis of the PTDSS1 gene to detect any mutations that may lead to the disorder. It is a crucial step for accurate diagnosis and can help in managing the condition through early intervention and tailored treatment plans.

The cost of the PTDSS1 gene Lenz-Majewski Hyperostotic Dwarfism genetic test at DNA Labs UAE is 4400 AED. This investment covers the sophisticated techniques and expert analysis required to accurately identify the genetic alterations associated with LMHD. By opting for this test, patients and their families can gain valuable insights into their genetic makeup, enabling informed decisions regarding their health and future.

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PTDSS1 Gene Lenz-Majewski hyperostotic dwarfism Genetic Test

Cost: AED 4400.0

Symptoms, Diagnosis, and Test Details

Lenz-Majewski hyperostotic dwarfism is a rare genetic disorder characterized by multiple skeletal abnormalities and intellectual disability. To diagnose this condition, DNA Labs UAE offers a genetic test specifically for the PTDSS1 gene.

The PTDSS1 Gene Lenz-Majewski hyperostotic dwarfism Genetic Test costs AED 4400.0 and requires a sample of blood or extracted DNA, or one drop of blood on an FTA Card. The report delivery time is approximately 3 to 4 weeks.

The test is performed using NGS (Next-Generation Sequencing) technology, which allows for the simultaneous analysis of multiple genes. In addition to the PTDSS1 gene, other genes associated with genetic disorders may also be analyzed.

Pre-Test Information

Prior to the genetic test, it is important to provide the clinical history of the patient who will undergo the PTDSS1 Gene Lenz-Majewski hyperostotic dwarfism NGS Genetic DNA Test. A genetic counseling session will be conducted to draw a pedigree chart of family members affected by the disorder.

The test will be conducted by a pediatrician in the Genetics department. Genetic counseling and testing can help in identifying mutations or variations in the PTDSS1 gene, leading to a comprehensive analysis of the individual’s genetic makeup and a more accurate diagnosis.

Conclusion

Genetic testing for Lenz-Majewski hyperostotic dwarfism, specifically for the PTDSS1 gene, can provide valuable insights into the diagnosis and management of this rare genetic disorder. With the use of NGS technology, DNA Labs UAE offers a comprehensive and accurate analysis of the individual’s genetic makeup, aiding in the identification of mutations or variations associated with the disorder.

Test Name PTDSS1 Gene Lenz-Majewski hyperostotic dwarfism 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 PTDSS1 Gene Lenz-Majewski hyperostotic dwarfism NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PTDSS1 Gene Lenz-Majewski hyperostotic dwarfism NGS Genetic DNA Test gene PTDSS1
Test Details

The PTDSS1 gene is associated with Lenz-Majewski hyperostotic dwarfism, a rare genetic disorder characterized by multiple skeletal abnormalities and intellectual disability.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses high-throughput sequencing technologies to analyze multiple genes simultaneously. It can be used to identify mutations or variations in the PTDSS1 gene or other genes associated with genetic disorders.

NGS genetic testing for Lenz-Majewski hyperostotic dwarfism may involve sequencing the entire coding region of the PTDSS1 gene, as well as potentially other genes known to be associated with the disorder. This type of testing can provide a comprehensive analysis of the individual’s genetic makeup and help in diagnosing the condition.

SKU: TEST-4204