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INPP5E Gene Mental Retardation Truncal Obesity Retinal Dystrophy and Micropenis Genetic Test Cost

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

-21%

The “INPP5E Gene Mental Retardation Truncal Obesity Retinal Dystrophy and Micropenis Genetic Test” is a specialized diagnostic procedure available at DNA Labs UAE. This test is designed to detect mutations in the INPP5E gene, which have been associated with a complex syndrome characterized by mental retardation, truncal obesity, retinal dystrophy, and micropenis. The condition is rare and falls under the category of ciliopathies, which are disorders related to the dysfunction of cilia, essential microscopic structures present in many cell types throughout the body.

The INPP5E gene plays a critical role in the proper functioning and structure of cilia, and mutations in this gene can disrupt cilia’s role, leading to a wide range of clinical manifestations. This genetic test involves analyzing the patient’s DNA to identify any mutations in the INPP5E gene that could be responsible for the syndrome’s symptoms.

The test is priced at 4400 AED and is performed at DNA Labs UAE, a facility known for its state-of-the-art genetic testing services. The cost reflects the comprehensive nature of the test, including the sophisticated technology and expertise required to accurately identify mutations in the INPP5E gene. This test is crucial for families seeking a diagnosis for symptoms related to the syndrome, as it can provide valuable information for managing the condition and understanding the genetic risks for future offspring.

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INPP5E Gene Mental Retardation Truncal Obesity Retinal Dystrophy and Micropenis Genetic Test

Test Name: INPP5E Gene Mental retardation truncal obesity retinal dystrophy and micropenis 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 INPP5E Gene Mental retardation, truncal obesity, retinal dystrophy, and micropenis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with INPP5E Gene Mental retardation, truncal obesity, retinal dystrophy, and micropenis NGS Genetic DNA Test gene INPP5E

Test Details: The INPP5E gene is associated with a rare genetic disorder called Joubert syndrome. Joubert syndrome is characterized by various neurological and developmental abnormalities. Some of the common features include mental retardation, truncal obesity (excessive fat accumulation in the trunk area), retinal dystrophy (abnormalities in the retina leading to vision problems), and micropenis (abnormally small penis size in males). NGS (Next-Generation Sequencing) genetic testing is a diagnostic method used to analyze a person’s DNA for genetic variations. It is a high-throughput technology that can simultaneously sequence multiple genes or even the entire genome. NGS can help identify mutations or alterations in the INPP5E gene, providing a genetic diagnosis for individuals suspected of having Joubert syndrome or related conditions. It is important to note that while these features are commonly associated with Joubert syndrome, the severity and combination of symptoms can vary among affected individuals. Genetic testing, along with a thorough clinical evaluation, can help confirm the diagnosis and guide appropriate medical management and support.

Test Name INPP5E Gene Mental retardation truncal obesity retinal dystrophy and micropenis 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 INPP5E Gene Mental retardation, truncal obesity, retinal dystrophy, and micropenis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with INPP5E Gene Mental retardation, truncal obesity, retinal dystrophy, and micropenis NGS Genetic DNA Test gene INPP5E
Test Details

The INPP5E gene is associated with a rare genetic disorder called Joubert syndrome. Joubert syndrome is characterized by various neurological and developmental abnormalities. Some of the common features include mental retardation, truncal obesity (excessive fat accumulation in the trunk area), retinal dystrophy (abnormalities in the retina leading to vision problems), and micropenis (abnormally small penis size in males).

NGS (Next-Generation Sequencing) genetic testing is a diagnostic method used to analyze a person’s DNA for genetic variations. It is a high-throughput technology that can simultaneously sequence multiple genes or even the entire genome. NGS can help identify mutations or alterations in the INPP5E gene, providing a genetic diagnosis for individuals suspected of having Joubert syndrome or related conditions.

It is important to note that while these features are commonly associated with Joubert syndrome, the severity and combination of symptoms can vary among affected individuals. Genetic testing, along with a thorough clinical evaluation, can help confirm the diagnosis and guide appropriate medical management and support.

SKU: TEST-4234 Category:

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