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POLD1 Gene Mandibular Hypoplasia Deafness Progeroid Features and Lipodystrophy Syndrome Genetic Test Cost

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

-21%

The POLD1 Gene Mandibular Hypoplasia Deafness Progeroid Features and Lipodystrophy Syndrome Genetic Test is a comprehensive diagnostic tool offered by DNA Labs UAE, designed to identify mutations in the POLD1 gene. These mutations are associated with a rare genetic disorder characterized by a range of symptoms including mandibular hypoplasia (underdevelopment of the jaw), deafness, features of premature aging (progeroid features), and lipodystrophy (abnormal distribution of body fat). The test is crucial for accurate diagnosis, enabling targeted management and treatment strategies for affected individuals.

Performed using a sample of the patient’s DNA, the test scrutinizes the POLD1 gene for specific mutations known to cause this syndrome. Given the complexity and the precision of the technology involved, the cost of the test is 4400 AED. Conducting the test at DNA Labs UAE ensures that patients and healthcare providers benefit from the expertise of a leading genetics laboratory, known for its advanced diagnostic capabilities and commitment to quality healthcare solutions. Early and accurate diagnosis through this genetic test can significantly improve the quality of life for individuals with this rare condition, by facilitating timely interventions and personalized care plans.

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POLD1 Gene Mandibular Hypoplasia Deafness Progeroid Features and Lipodystrophy Syndrome Genetic Test

Test Name: POLD1 Gene Mandibular Hypoplasia Deafness Progeroid Features and Lipodystrophy Syndrome Genetic Test

Components: NGS Technology

Price: 4400.0 AED

Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card

Report Delivery: 3 to 4 Weeks

Test Type: Dysmorphology

Doctor: Pediatrics

Test Department: Genetics

Pre Test Information: Clinical History of Patient who is going for POLD1 Gene Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with POLD1 Gene Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome NGS Genetic DNA Test gene POLD1

Test Details:

The POLD1 gene is associated with a rare genetic disorder called Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome (MDPL). MDPL is characterized by several features including underdevelopment of the lower jaw (mandibular hypoplasia), hearing loss (deafness), premature aging (progeroid features), and abnormal distribution of body fat (lipodystrophy).

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technology to analyze multiple genes simultaneously. In the case of MDPL, NGS genetic testing can be used to identify mutations or variations in the POLD1 gene that may be responsible for the development of the syndrome.

By analyzing the POLD1 gene, NGS genetic testing can provide valuable information about the presence of mutations or variations that may help in confirming a diagnosis of MDPL. This can be particularly useful for individuals with clinical symptoms suggestive of MDPL but without a confirmed diagnosis.

It is important to note that NGS genetic testing is a complex process that requires specialized laboratory facilities and expertise. Therefore, it is typically performed by healthcare professionals or geneticists who specialize in genetic testing and interpretation of results.

The results of NGS genetic testing can help guide healthcare providers in developing a personalized treatment plan and providing appropriate medical care for individuals with MDPL.

Test Name POLD1 Gene Mandibular hypoplasia deafness progeroid features and lipodystrophy syndrome 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 POLD1 Gene Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with POLD1 Gene Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome NGS Genetic DNA Test gene POLD1
Test Details

The POLD1 gene is associated with a rare genetic disorder called Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL). MDPL is characterized by several features including underdevelopment of the lower jaw (mandibular hypoplasia), hearing loss (deafness), premature aging (progeroid features), and abnormal distribution of body fat (lipodystrophy).

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technology to analyze multiple genes simultaneously. In the case of MDPL, NGS genetic testing can be used to identify mutations or variations in the POLD1 gene that may be responsible for the development of the syndrome.

By analyzing the POLD1 gene, NGS genetic testing can provide valuable information about the presence of mutations or variations that may help in confirming a diagnosis of MDPL. This can be particularly useful for individuals with clinical symptoms suggestive of MDPL but without a confirmed diagnosis.

It is important to note that NGS genetic testing is a complex process that requires specialized laboratory facilities and expertise. Therefore, it is typically performed by healthcare professionals or geneticists who specialize in genetic testing and interpretation of results. The results of NGS genetic testing can help guide healthcare providers in developing a personalized treatment plan and providing appropriate medical care for individuals with MDPL.

SKU: TEST-4218 Category:

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