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HADHB Gene Trifunctional protein deficiency Genetic Test Cost

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

-21%

The HADHB gene trifunctional protein deficiency genetic test is a specialized diagnostic procedure aimed at detecting mutations in the HADHB gene, which is crucial for the proper functioning of the mitochondrial trifunctional protein complex. This complex plays a vital role in the breakdown and processing of long-chain fatty acids, a key energy source for the body. Deficiencies in this protein can lead to a range of metabolic disorders, including the severe condition known as trifunctional protein deficiency. This condition can manifest with symptoms such as muscle weakness, cardiomyopathy, hypoglycemia, and liver dysfunction, often presenting in infancy or early childhood.

The genetic test involves analyzing the patient’s DNA, usually extracted from a blood sample, to identify any mutations in the HADHB gene that may disrupt the normal function of the trifunctional protein. Early detection through genetic testing is crucial for managing symptoms, preventing complications, and improving the quality of life for affected individuals.

The cost of the HADHB gene trifunctional protein deficiency genetic test is 4400 AED. This test is available at DNA Labs UAE, a leading facility in genetic testing and analysis. DNA Labs UAE is equipped with state-of-the-art technology and staffed by experienced geneticists and laboratory technicians, ensuring accurate and reliable test results. Patients and healthcare providers considering this test are encouraged to contact DNA Labs UAE for more information on the procedure, preparation, and any follow-up consultations that may be necessary based on the test results.

Description

HADHB Gene Trifunctional Protein Deficiency Genetic Test

Test Name: HADHB Gene Trifunctional Protein Deficiency Genetic Test

Components: HADHB gene trifunctional protein deficiency genetic test

Price: AED 4400.0

Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card

Report Delivery: 3 to 4 Weeks

Method: NGS Technology

Test Type: Hepatology, Nephrology, Endocrinology Disorders

Doctor: General Physician

Test Department: Genetics

Pre Test Information: Clinical History of Patient who is going for HADHB Gene Trifunctional Protein Deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with HADHB Gene Trifunctional Protein Deficiency NGS Genetic DNA Test gene HADHB.

Test Details: HADHB gene trifunctional protein deficiency (TFP deficiency) is a rare genetic disorder that affects the metabolism of fatty acids. It is caused by mutations in the HADHB gene, which provides instructions for making an enzyme called trifunctional protein. Trifunctional protein is involved in breaking down long-chain fatty acids for energy production. Mutations in the HADHB gene can lead to a decrease or complete loss of trifunctional protein activity, resulting in the accumulation of fatty acids in various tissues and organs.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that can be used to identify mutations in the HADHB gene associated with TFP deficiency. NGS allows for the simultaneous sequencing of multiple genes, making it a powerful tool for identifying genetic variants quickly and accurately. By analyzing the DNA sequence of the HADHB gene, NGS genetic testing can identify specific mutations that may be responsible for trifunctional protein deficiency. This information can be used for diagnosis, genetic counseling, and potentially guiding treatment decisions.

It is important to note that NGS genetic testing is typically performed by healthcare professionals, such as geneticists or genetic counselors, and the results should be interpreted in conjunction with a thorough clinical evaluation.

Test Name	HADHB Gene Trifunctional protein deficiency 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	Hepatology Nephrology Endocrinology Disorders
Doctor	General Physician
Test Department:	Genetics
Pre Test Information	Clinical History of Patient who is going for HADHB Gene Trifunctional protein deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with HADHB Gene Trifunctional protein deficiency NGS Genetic DNA Test gene HADHB
Test Details	HADHB gene trifunctional protein deficiency (TFP deficiency) is a rare genetic disorder that affects the metabolism of fatty acids. It is caused by mutations in the HADHB gene, which provides instructions for making an enzyme called trifunctional protein. Trifunctional protein is involved in breaking down long-chain fatty acids for energy production. Mutations in the HADHB gene can lead to a decrease or complete loss of trifunctional protein activity, resulting in the accumulation of fatty acids in various tissues and organs. NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that can be used to identify mutations in the HADHB gene associated with TFP deficiency. NGS allows for the simultaneous sequencing of multiple genes, making it a powerful tool for identifying genetic variants quickly and accurately. By analyzing the DNA sequence of the HADHB gene, NGS genetic testing can identify specific mutations that may be responsible for trifunctional protein deficiency. This information can be used for diagnosis, genetic counseling, and potentially guiding treatment decisions. It is important to note that NGS genetic testing is typically performed by healthcare professionals, such as geneticists or genetic counselors, and the results should be interpreted in conjunction with a thorough clinical evaluation.