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KIF1BP Gene Goldberg-Shprintzen Megacolon Syndrome Genetic Test Cost

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

-21%

The KIF1BP Gene Goldberg-Shprintzen Megacolon Syndrome Genetic Test is a specialized diagnostic tool designed to identify mutations in the KIF1BP gene, which are linked to the development of Goldberg-Shprintzen Megacolon Syndrome (GOSHS). GOSHS is a rare genetic disorder characterized by features such as Hirschsprung’s disease (a condition causing blockage of the large intestine due to improper muscle movement in the bowel), intellectual disabilities, microcephaly (small head size), and distinctive facial features, among others. The identification of mutations in the KIF1BP gene through this test can provide crucial information for the diagnosis, management, and treatment planning for individuals suspected of having this syndrome.

The test is available at DNA Labs UAE, a leading genetic testing facility known for its advanced diagnostic technologies and expertise in genetic analysis. The cost of the test is 4400 AED, reflecting the comprehensive nature of the analysis and the specialized expertise required to interpret the results accurately. This test is an essential tool for healthcare providers and families seeking to understand the genetic basis of Goldberg-Shprintzen Megacolon Syndrome and to make informed decisions about care and support for affected individuals.

Description

KIF1BP Gene Goldberg-Shprintzen Megacolon Syndrome Genetic Test

Test Name: KIF1BP Gene Goldberg-Shprintzen Megacolon Syndrome Genetic Test

Components: DNA Labs UAE offers this genetic test at a cost of 4400.0 AED.

Sample Condition: The test can be conducted using blood or extracted DNA. Alternatively, one drop of blood can be placed on an FTA Card.

Report Delivery: The test results will be delivered within 3 to 4 weeks.

Method: The test utilizes NGS (Next-Generation Sequencing) technology.

Test Type: The KIF1BP Gene Goldberg-Shprintzen Megacolon Syndrome Genetic Test falls under the category of dysmorphology.

Doctor: The test is conducted by pediatricians.

Test Department: The test is conducted in the Genetics department.

Pre Test Information: Before undergoing the KIF1BP Gene Goldberg-Shprintzen Megacolon Syndrome Genetic Test, it is necessary to provide the clinical history of the patient. Additionally, a genetic counseling session is conducted to create a pedigree chart of family members affected by the syndrome.

Test Details: The KIF1BP gene is associated with Goldberg-Shprintzen Megacolon Syndrome, a rare genetic disorder characterized by multiple abnormalities including Hirschsprung disease (megacolon), intellectual disability, characteristic facial features, and developmental delays. NGS genetic testing is used to analyze the DNA sequence of an individual’s genes, allowing for the simultaneous analysis of multiple genes or even the entire exome. In the case of Goldberg-Shprintzen Megacolon Syndrome, NGS genetic testing can identify mutations or variants in the KIF1BP gene that may be responsible for the syndrome. This information is valuable for confirming a diagnosis, genetic counseling, and family planning purposes.

Test Name	KIF1BP Gene Goldberg-Shprintzen megacolon 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 KIF1BP Gene Goldberg-Shprintzen megacolon syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with KIF1BP Gene Goldberg-Shprintzen megacolon syndrome NGS Genetic DNA Test gene KIF1BP
Test Details	The KIF1BP gene is associated with Goldberg-Shprintzen megacolon syndrome. This syndrome is a rare genetic disorder characterized by multiple abnormalities, including Hirschsprung disease (megacolon), intellectual disability, characteristic facial features, and other developmental delays. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze the DNA sequence of an individual’s genes. It allows for the simultaneous analysis of multiple genes or even the entire exome (protein-coding region of the genome). In the context of Goldberg-Shprintzen megacolon syndrome, NGS genetic testing can be used to identify mutations or variants in the KIF1BP gene that may be responsible for the syndrome. By analyzing the DNA sequence of the KIF1BP gene, NGS genetic testing can provide valuable information about the presence or absence of mutations or variants in this gene. This information can help in confirming a diagnosis of Goldberg-Shprintzen megacolon syndrome and can also be useful for genetic counseling and family planning purposes.