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ASCL1 Gene Central Hypoventilation Syndrome Congenital Genetic Test Cost

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

-21%

The ASCL1 Gene Central Hypoventilation Syndrome Congenital Genetic Test is a specialized diagnostic procedure designed to identify mutations in the ASCL1 gene, which are associated with Congenital Central Hypoventilation Syndrome (CCHS). CCHS is a rare genetic disorder that affects the autonomic control of breathing, causing individuals to hypoventilate, especially during sleep, leading to insufficient oxygen levels and an excess of carbon dioxide in the blood. The test is crucial for early diagnosis and management of the condition, which can significantly improve the quality of life and prognosis for affected individuals.

Performed at DNA Labs UAE, a leading facility in genetic testing, the test involves collecting a DNA sample, typically through a blood draw or cheek swab, and analyzing the genetic material for specific mutations in the ASCL1 gene. This gene plays a vital role in the development of the nervous system, including the neural networks responsible for controlling breathing.

The cost of the ASCL1 Gene Central Hypoventilation Syndrome Congenital Genetic Test is set at 4400 AED. While the price may seem significant, the test provides invaluable information for the diagnosis, treatment planning, and family counseling for those affected by CCHS. Early and accurate diagnosis through this genetic test can lead to timely interventions, reducing the risk of complications associated with the syndrome and improving the overall outcomes for patients.

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ASCL1 Gene Central Hypoventilation Syndrome Congenital Genetic Test

Test Details

The ASCL1 gene, also known as achaete-scute family bHLH transcription factor 1, plays a crucial role in the development of the autonomic nervous system, including the control of breathing. Mutations in the ASCL1 gene have been associated with a rare genetic disorder called Congenital Central Hypoventilation Syndrome (CCHS).

CCHS is a condition characterized by abnormal control of breathing, particularly during sleep. Individuals with CCHS have a reduced or absent drive to breathe, leading to hypoventilation (reduced breathing) and low levels of oxygen in the blood. This can result in symptoms such as shallow breathing, difficulty waking up from sleep, and cyanosis (bluish discoloration of the skin).

Next-Generation Sequencing (NGS) genetic testing is a powerful tool used to analyze the DNA sequence of genes, including the ASCL1 gene. This type of testing allows for the identification of specific genetic mutations or variants that may be responsible for a particular disorder or condition, such as CCHS.

NGS genetic testing for ASCL1 gene mutations can help in the diagnosis of CCHS, especially in cases where the clinical presentation is atypical or when other genetic causes have been ruled out. It can also provide valuable information for genetic counseling, as it can help determine the inheritance pattern of the condition within a family.

Overall, NGS genetic testing for the ASCL1 gene can contribute to a better understanding of the genetic basis of CCHS and aid in the diagnosis and management of affected individuals.

Test Name

ASCL1 Gene Central Hypoventilation Syndrome Congenital 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 ASCL1 Gene Central Hypoventilation Syndrome, Congenital NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ASCL1 Gene Central Hypoventilation Syndrome, Congenital NGS Genetic DNA Test gene ASCL1

Test Name ASCL1 Gene Central hypoventilation syndrome congenital 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 ASCL1 Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ASCL1 Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test gene ASCL1
Test Details

ASCL1 gene, also known as achaete-scute family bHLH transcription factor 1, is a gene that plays a crucial role in the development of the autonomic nervous system, including the control of breathing. Mutations in the ASCL1 gene have been associated with a rare genetic disorder called Congenital Central Hypoventilation Syndrome (CCHS).

CCHS is a condition characterized by abnormal control of breathing, particularly during sleep. Individuals with CCHS have a reduced or absent drive to breathe, leading to hypoventilation (reduced breathing) and low levels of oxygen in the blood. This can result in symptoms such as shallow breathing, difficulty waking up from sleep, and cyanosis (bluish discoloration of the skin).

Next-Generation Sequencing (NGS) genetic testing is a powerful tool used to analyze the DNA sequence of genes, including the ASCL1 gene. This type of testing allows for the identification of specific genetic mutations or variants that may be responsible for a particular disorder or condition, such as CCHS.

NGS genetic testing for ASCL1 gene mutations can help in the diagnosis of CCHS, especially in cases where the clinical presentation is atypical or when other genetic causes have been ruled out. It can also provide valuable information for genetic counseling, as it can help determine the inheritance pattern of the condition within a family.

Overall, NGS genetic testing for the ASCL1 gene can contribute to a better understanding of the genetic basis of CCHS and aid in the diagnosis and management of affected individuals.

SKU: TEST-4030 Category:

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