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SETBP1 Gene Schinzel-Giedion Midface Retraction Syndrome Genetic Test

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

-21%

The SETBP1 gene Schinzel-Giedion Midface Retraction Syndrome genetic test is a specialized diagnostic procedure aimed at detecting mutations in the SETBP1 gene, which are linked to Schinzel-Giedion Syndrome (SGS). This condition is characterized by severe developmental delays, distinctive facial features including midface retraction, and multiple congenital anomalies affecting various organs. The test is crucial for confirming the diagnosis of SGS, enabling appropriate management and care plans for affected individuals.

Conducted at DNA Labs UAE, this test is available for a cost of 4400 AED. DNA Labs UAE is equipped with state-of-the-art technology and staffed by experts in genetics, ensuring accurate and reliable results. The test involves collecting a DNA sample, usually through a blood draw or cheek swab, which is then analyzed for the specific mutations in the SETBP1 gene associated with the syndrome. The results can provide invaluable information for families, including the basis for genetic counseling, insights into the condition’s progression, and potential treatment or management options.

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SETBP1 Gene Schinzel-Giedion midface retraction syndrome Genetic Test

Test Name: SETBP1 Gene Schinzel-Giedion midface retraction syndrome Genetic Test

Components: Blood or Extracted DNA or One drop Blood on FTA Card

Price: 4400.0 AED

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 SETBP1 Gene Schinzel-Giedion midface retraction syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SETBP1 Gene Schinzel-Giedion midface retraction syndrome NGS Genetic DNA Test gene SETBP1

Test Details

The SETBP1 gene is associated with a rare genetic disorder called Schinzel-Giedion midface retraction syndrome. This syndrome is characterized by distinctive facial features, intellectual disability, seizures, and other physical abnormalities.

NGS (Next-Generation Sequencing) is a genetic testing method that can be used to analyze multiple genes simultaneously. In the case of Schinzel-Giedion midface retraction syndrome, NGS can be used to identify mutations or variations in the SETBP1 gene that may be responsible for the disorder.

NGS genetic testing involves sequencing the DNA of an individual to identify any changes or variations in the SETBP1 gene. This can help in confirming a diagnosis of Schinzel-Giedion midface retraction syndrome and providing information about the specific genetic variant present in the individual.

It is important to note that genetic testing should be done under the guidance of a medical professional or genetic counselor who can provide appropriate counseling and interpretation of the results.

Test Name SETBP1 Gene Schinzel-Giedion midface retraction 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 SETBP1 Gene Schinzel-Giedion midface retraction syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SETBP1 Gene Schinzel-Giedion midface retraction syndrome NGS Genetic DNA Test gene SETBP1
Test Details

The SETBP1 gene is associated with a rare genetic disorder called Schinzel-Giedion midface retraction syndrome. This syndrome is characterized by distinctive facial features, intellectual disability, seizures, and other physical abnormalities.

NGS (Next-Generation Sequencing) is a genetic testing method that can be used to analyze multiple genes simultaneously. In the case of Schinzel-Giedion midface retraction syndrome, NGS can be used to identify mutations or variations in the SETBP1 gene that may be responsible for the disorder.

NGS genetic testing involves sequencing the DNA of an individual to identify any changes or variations in the SETBP1 gene. This can help in confirming a diagnosis of Schinzel-Giedion midface retraction syndrome and providing information about the specific genetic variant present in the individual.

It is important to note that genetic testing should be done under the guidance of a medical professional or genetic counselor who can provide appropriate counseling and interpretation of the results.