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SMARCE1 Gene Coffin-Siris Syndrome SMARCE1 Related Genetic Test Cost

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

-21%

The SMARCE1 gene plays a crucial role in the development of Coffin-Siris syndrome, a rare genetic disorder characterized by developmental delays, intellectual disability, distinctive facial features, and abnormalities of the fifth fingers or toes. The syndrome results from mutations affecting components of the BAF complex, a critical player in chromatin remodeling, which influences DNA repair, replication, and gene expression.

To diagnose or confirm a diagnosis of Coffin-Siris syndrome related to the SMARCE1 gene, genetic testing is available at DNA Labs UAE. This specialized test involves analyzing the patient’s DNA to identify mutations in the SMARCE1 gene that are indicative of the syndrome. The test is crucial for accurate diagnosis, allowing for tailored management and care plans for affected individuals.

The cost of the SMARCE1 genetic test at DNA Labs UAE is 4400 AED. This investment covers the sophisticated laboratory procedures required to accurately detect mutations in the SMARCE1 gene, offering invaluable insights for patients and their families. Through this testing, families can gain a better understanding of the condition, including potential implications for family planning and the management of the syndrome’s manifestations.

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SMARCE1 Gene Coffin-Siris Syndrome Genetic Test

The SMARCE1 gene is associated with Coffin-Siris syndrome, a rare genetic disorder characterized by intellectual disability, developmental delays, distinctive facial features, and other physical abnormalities. To diagnose this syndrome, DNA Labs UAE offers the SMARCE1 Gene Coffin-Siris Syndrome SMARCE1 related Genetic Test.

Test Components and Price

The cost of the SMARCE1 Gene Coffin-Siris Syndrome SMARCE1 related Genetic Test is AED 4400.0. The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.

Report Delivery and Method

The report for the SMARCE1 Gene Coffin-Siris Syndrome SMARCE1 related Genetic Test will be delivered within 3 to 4 weeks. The test is performed using NGS (Next-Generation Sequencing) technology.

Test Type and Doctor

The SMARCE1 Gene Coffin-Siris Syndrome SMARCE1 related Genetic Test falls under the category of Dysmorphology. It is recommended to consult with a pediatrician for this test.

Test Department and Pre Test Information

The test is conducted in the Genetics department. Prior to the test, it is important to provide the clinical history of the patient who is going for the SMARCE1 Gene Coffin-Siris Syndrome SMARCE1 related NGS Genetic DNA Test. A genetic counseling session will also be conducted to draw a pedigree chart of family members affected with Coffin-Siris syndrome.

Test Details

NGS (Next-Generation Sequencing) genetic testing is used to analyze the SMARCE1 gene for mutations or variations that may be causing Coffin-Siris syndrome. This technology allows for the simultaneous sequencing of multiple genes, providing a more comprehensive analysis compared to traditional Sanger sequencing methods.

The SMARCE1 related NGS genetic test involves obtaining a DNA sample, typically through a blood sample or saliva swab, from the individual being tested. The DNA is then sequenced using NGS technology to identify any genetic variations or mutations in the SMARCE1 gene.

The results of the SMARCE1 related NGS genetic test can help confirm a diagnosis of Coffin-Siris syndrome and provide information about the specific genetic variant or mutation present. This information can be useful for genetic counseling, family planning, and potentially guiding treatment options or management strategies for individuals with Coffin-Siris syndrome.

Test Name SMARCE1 Gene Coffin-Siris syndrome SMARCE1 related 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 SMARCE1 Gene Coffin-Siris syndrome, SMARCE1 related NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SMARCE1 Gene Coffin-Siris syndrome, SMARCE1 related NGS Genetic DNA Test gene SMARCE1
Test Details

The SMARCE1 gene is associated with Coffin-Siris syndrome, a rare genetic disorder characterized by intellectual disability, developmental delays, distinctive facial features, and other physical abnormalities.

NGS (Next-Generation Sequencing) genetic testing can be used to analyze the SMARCE1 gene for mutations or variations that may be causing Coffin-Siris syndrome. NGS technology allows for the simultaneous sequencing of multiple genes, providing a more comprehensive analysis compared to traditional Sanger sequencing methods.

The SMARCE1 related NGS genetic test involves obtaining a DNA sample, typically through a blood sample or saliva swab, from the individual being tested. The DNA is then sequenced using NGS technology to identify any genetic variations or mutations in the SMARCE1 gene.

The results of the SMARCE1 related NGS genetic test can help confirm a diagnosis of Coffin-Siris syndrome and provide information about the specific genetic variant or mutation present. This information can be useful for genetic counseling, family planning, and potentially guiding treatment options or management strategies for individuals with Coffin-Siris syndrome.

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