HSD17B4 Gene D-bifunctional protein deficiency Genetic Test
Components: HSD17B4 Gene D-bifunctional protein deficiency Genetic Test
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: Metabolic Disorders
Doctor: General Physician
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for HSD17B4 Gene D-bifunctional protein deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with D-bifunctional protein deficiency
Test Details
HSD17B4 gene D-bifunctional protein deficiency is a rare autosomal recessive disorder that affects the breakdown of certain fats and proteins in the body. This condition is caused by mutations in the HSD17B4 gene, which provides instructions for making an enzyme called D-bifunctional protein. D-bifunctional protein plays a crucial role in the breakdown of long-chain fatty acids and certain types of proteins. Mutations in the HSD17B4 gene result in reduced or absent D-bifunctional protein activity, leading to the accumulation of fatty acids and toxic substances in various tissues and organs.
NGS (Next-Generation Sequencing) genetic testing is a type of DNA sequencing technology that allows for the simultaneous analysis of multiple genes. In the context of HSD17B4 gene D-bifunctional protein deficiency, NGS genetic testing can be used to identify mutations in the HSD17B4 gene.
NGS genetic testing for HSD17B4 gene D-bifunctional protein deficiency involves obtaining a DNA sample, typically through a blood or saliva sample, from the individual being tested. The DNA is then sequenced using NGS technology to identify any mutations or variations in the HSD17B4 gene.
This genetic test can provide a definitive diagnosis of HSD17B4 gene D-bifunctional protein deficiency and help guide appropriate medical management and treatment options. It can also be used for carrier testing in individuals with a family history of the condition.
It is important to note that genetic testing for HSD17B4 gene D-bifunctional protein deficiency should be performed and interpreted by healthcare professionals with expertise in genetics and genetic counseling. They can provide appropriate guidance and support to individuals and families undergoing testing.
| Test Name | HSD17B4 Gene D-bifunctional 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 | Metabolic Disorders |
| Doctor | General Physician |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for HSD17B4 Gene D-bifunctional protein deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with D-bifunctional protein deficiency |
| Test Details |
HSD17B4 gene D-bifunctional protein deficiency is a rare autosomal recessive disorder that affects the breakdown of certain fats and proteins in the body. This condition is caused by mutations in the HSD17B4 gene, which provides instructions for making an enzyme called D-bifunctional protein. D-bifunctional protein plays a crucial role in the breakdown of long-chain fatty acids and certain types of proteins. Mutations in the HSD17B4 gene result in reduced or absent D-bifunctional protein activity, leading to the accumulation of fatty acids and toxic substances in various tissues and organs. NGS (Next-Generation Sequencing) genetic testing is a type of DNA sequencing technology that allows for the simultaneous analysis of multiple genes. In the context of HSD17B4 gene D-bifunctional protein deficiency, NGS genetic testing can be used to identify mutations in the HSD17B4 gene. NGS genetic testing for HSD17B4 gene D-bifunctional protein deficiency involves obtaining a DNA sample, typically through a blood or saliva sample, from the individual being tested. The DNA is then sequenced using NGS technology to identify any mutations or variations in the HSD17B4 gene. This genetic test can provide a definitive diagnosis of HSD17B4 gene D-bifunctional protein deficiency and help guide appropriate medical management and treatment options. It can also be used for carrier testing in individuals with a family history of the condition. It is important to note that genetic testing for HSD17B4 gene D-bifunctional protein deficiency should be performed and interpreted by healthcare professionals with expertise in genetics and genetic counseling. They can provide appropriate guidance and support to individuals and families undergoing testing. |
