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PHOX2A Gene Central Hypoventilation Syndrome Congenital Genetic Test Cost

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

-21%

The PHOX2A Gene Central Hypoventilation Syndrome Congenital Genetic Test is a specialized diagnostic assessment offered by DNA Labs UAE, designed to identify mutations in the PHOX2A gene, which are associated with the development of Congenital Central Hypoventilation Syndrome (CCHS). CCHS is a rare genetic condition characterized by the failure of automatic control of breathing, primarily affecting individuals from infancy. This condition necessitates lifelong support for adequate ventilation during sleep in severe cases, and its early detection is crucial for managing the syndrome effectively.

This genetic test involves collecting a DNA sample, usually through a blood draw or cheek swab, which is then analyzed in the laboratory for any abnormalities in the PHOX2A gene. The test is priced at 4400 AED and is conducted at the state-of-the-art facilities of DNA Labs UAE. The outcome of this test can provide essential information for the diagnosis, treatment planning, and genetic counseling for families affected by CCHS, offering them a pathway to better understand and manage this challenging condition.

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PHOX2A Gene Central Hypoventilation Syndrome Congenital Genetic Test

Introduction

PHOX2A gene Central hypoventilation syndrome (CHS), also known as congenital central hypoventilation syndrome (CCHS) or Ondine’s curse, is a rare genetic disorder characterized by a failure of automatic control of breathing. It is caused by mutations in the PHOX2A gene.

Test Details

Next-generation sequencing (NGS) genetic testing is a diagnostic tool used to identify genetic mutations associated with various disorders, including CHS. NGS allows for the simultaneous analysis of multiple genes, providing a comprehensive evaluation of the patient’s genetic makeup. NGS genetic testing for CHS involves sequencing the entire coding region of the PHOX2A gene to identify any disease-causing mutations. This can help confirm a diagnosis and provide information about the specific mutation present in an individual.

Test Components and Price

Test Name: PHOX2A Gene Central Hypoventilation Syndrome Congenital Genetic Test

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

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 PHOX2A Gene Central Hypoventilation Syndrome, Congenital NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PHOX2A Gene Central Hypoventilation Syndrome, Congenital NGS Genetic DNA Test gene PHOX2A.

Importance of Genetic Testing for CHS

Genetic testing can be useful for individuals with symptoms suggestive of CHS, as it can help guide treatment decisions, provide information about prognosis, and aid in family planning. It can also be used for carrier testing in individuals with a family history of CHS.

It is important to note that genetic testing for CHS should be done under the guidance of a healthcare professional, such as a genetic counselor or medical geneticist, who can interpret the results and provide appropriate counseling.

Test Name PHOX2A 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 PHOX2A Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PHOX2A Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test gene PHOX2A
Test Details

PHOX2A gene Central hypoventilation syndrome (CHS), also known as congenital central hypoventilation syndrome (CCHS) or Ondine’s curse, is a rare genetic disorder characterized by a failure of automatic control of breathing. It is caused by mutations in the PHOX2A gene.

Next-generation sequencing (NGS) genetic testing is a diagnostic tool used to identify genetic mutations associated with various disorders, including CHS. NGS allows for the simultaneous analysis of multiple genes, providing a comprehensive evaluation of the patient’s genetic makeup.

NGS genetic testing for CHS involves sequencing the entire coding region of the PHOX2A gene to identify any disease-causing mutations. This can help confirm a diagnosis and provide information about the specific mutation present in an individual.

Genetic testing can be useful for individuals with symptoms suggestive of CHS, as it can help guide treatment decisions, provide information about prognosis, and aid in family planning. It can also be used for carrier testing in individuals with a family history of CHS.

It is important to note that genetic testing for CHS should be done under the guidance of a healthcare professional, such as a genetic counselor or medical geneticist, who can interpret the results and provide appropriate counseling.

SKU: TEST-4037 Category:

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