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LAMA1 Gene Poretti-Boltshauser Syndrome Genetic Test Cost

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

-21%

The LAMA1 Gene Poretti-Boltshauser Syndrome Genetic Test is a specialized diagnostic procedure aimed at identifying mutations in the LAMA1 gene, which are associated with Poretti-Boltshauser Syndrome (PBS). PBS is a rare genetic disorder characterized by cerebellar ataxia, abnormalities in eye movement, and distinctive changes in the structure of the brain, particularly the cerebellum. These mutations are inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell have mutations for the disease to manifest.

The test is conducted at DNA Labs UAE, a reputable facility known for its advanced genetic testing services. The process involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the laboratory to detect any abnormalities or mutations in the LAMA1 gene that could indicate the presence of Poretti-Boltshauser Syndrome.

The cost of the LAMA1 Gene Poretti-Boltshauser Syndrome Genetic Test at DNA Labs UAE is set at 4400 AED. This price may encompass the full service from sample collection, analysis, and provision of a comprehensive report that interprets the results in a context that is understandable to both healthcare professionals and the patient. This test is crucial for families with a history of PBS, as early diagnosis can aid in managing symptoms and improving the quality of life for affected individuals.

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  • This test is not intended for medical diagnosis or treatment
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LAMA1 Gene Poretti-Boltshauser syndrome Genetic Test

At DNA Labs UAE, we offer the LAMA1 Gene Poretti-Boltshauser syndrome Genetic Test for individuals who may be affected by this rare genetic disorder that affects brain development. This test utilizes NGS (Next-Generation Sequencing) technology, allowing for a more comprehensive analysis of the LAMA1 gene.

Test Components and Price

The LAMA1 Gene Poretti-Boltshauser syndrome Genetic Test is priced at 4400.0 AED. The test can be performed using a blood sample, extracted DNA, or one drop of blood on an FTA card.

Report Delivery and Method

After the sample is collected, the report will be delivered within 3 to 4 weeks. The test utilizes NGS technology, which enables simultaneous analysis of multiple genes or even the entire genome.

Test Type and Doctor

The LAMA1 Gene Poretti-Boltshauser syndrome Genetic Test falls under the category of Dysmorphology. It is recommended to consult with a Pediatrics specialist for this test.

Test Department and Pre Test Information

The LAMA1 Gene Poretti-Boltshauser syndrome Genetic Test is conducted in the Genetics department. Before undergoing the test, it is important to provide the clinical history of the patient and participate in a Genetic Counselling session to draw a pedigree chart of family members affected by the syndrome.

Test Details

The LAMA1 gene is associated with Poretti-Boltshauser syndrome, a rare genetic disorder that affects brain development. NGS genetic testing allows for the identification of specific mutations or variations in the LAMA1 gene that may be causing the syndrome. This type of testing is more comprehensive and efficient compared to traditional sequencing methods, as it can analyze a large number of genes simultaneously, providing a more comprehensive picture of an individual’s genetic makeup.

By identifying the specific genetic mutation in the LAMA1 gene, NGS genetic testing can help in confirming a diagnosis of Poretti-Boltshauser syndrome. It can also provide valuable information for genetic counseling, family planning, and potential treatment options.

Test Name LAMA1 Gene Poretti-Boltshauser 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 LAMA1 Gene Poretti-Boltshauser syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with LAMA1 Gene Poretti-Boltshauser syndrome NGS Genetic DNA Test gene LAMA1
Test Details

The LAMA1 gene is associated with Poretti-Boltshauser syndrome, a rare genetic disorder that affects brain development. NGS (Next-Generation Sequencing) genetic testing is a type of DNA sequencing that allows for the simultaneous analysis of multiple genes or even the entire genome.

NGS genetic testing can be used to identify specific mutations or variations in the LAMA1 gene that may be causing Poretti-Boltshauser syndrome. This type of testing is more comprehensive and efficient compared to traditional sequencing methods, as it can analyze a large number of genes simultaneously, providing a more comprehensive picture of an individual’s genetic makeup.

By identifying the specific genetic mutation in the LAMA1 gene, NGS genetic testing can help in confirming a diagnosis of Poretti-Boltshauser syndrome. It can also provide valuable information for genetic counseling, family planning, and potential treatment options.

SKU: TEST-4326