POMC Gene Obesity with Adrenal Insufficiency and Red Hair Genetic Test
At DNA Labs UAE, we offer the POMC Gene Obesity with adrenal insufficiency and red hair Genetic Test for AED 4400.0. This test is used to diagnose a rare genetic disorder called POMC deficiency syndrome, which is characterized by obesity, adrenal insufficiency, and red hair color.
Test Components and Details
- Test Name: POMC Gene Obesity with adrenal insufficiency and red hair 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: Hepatology Nephrology Endocrinology Disorders
- Doctor: General Physician
- Test Department: Genetics
Pre Test Information
Prior to undergoing the POMC Gene Obesity with adrenal insufficiency and red hair Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to create a pedigree chart of family members affected by POMC deficiency syndrome.
About POMC Gene and POMC Deficiency Syndrome
The POMC gene is responsible for producing a prohormone called pro-opiomelanocortin. This prohormone is then cleaved into various smaller peptides, including melanocyte-stimulating hormone (MSH), adrenocorticotropic hormone (ACTH), and beta-endorphin. Mutations in the POMC gene can lead to POMC deficiency syndrome.
Obesity: Mutations in the POMC gene can disrupt the production of MSH, which regulates appetite and energy balance. This can result in excessive hunger and overeating, leading to obesity.
Adrenal insufficiency: POMC is involved in the production of ACTH, which stimulates the adrenal glands to produce cortisol. Mutations in the POMC gene can reduce ACTH production, leading to adrenal insufficiency.
Red hair: One of the cleavage products of POMC is alpha-melanocyte-stimulating hormone (-MSH), which determines hair color. Mutations in the POMC gene can disrupt the production of -MSH, resulting in red hair color.
Test Procedure
To diagnose POMC deficiency syndrome, a next-generation sequencing (NGS) genetic test is performed. NGS allows for the simultaneous analysis of multiple genes, and in this case, the POMC gene is specifically targeted for sequencing to identify any mutations or variants responsible for the observed symptoms.
It is important to note that POMC deficiency syndrome is a rare disorder, and a genetic test is necessary to confirm the diagnosis. If you suspect you or someone you know may have POMC deficiency syndrome, it is recommended to consult with a healthcare professional or genetic counselor for further evaluation and guidance.
| Test Name | POMC Gene Obesity with adrenal insufficiency and red hair 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 POMC Gene Obesity with adrenal insufficiency and red hair NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with POMC Gene Obesity with adrenal insufficiency and red hair NGS Genetic DNA Test gene POMC |
| Test Details |
The POMC gene is responsible for producing a prohormone called pro-opiomelanocortin. This prohormone is then cleaved into various smaller peptides, including melanocyte-stimulating hormone (MSH), adrenocorticotropic hormone (ACTH), and beta-endorphin. Mutations in the POMC gene can lead to a rare genetic disorder called POMC deficiency syndrome. This syndrome is characterized by obesity, adrenal insufficiency (also known as adrenal hypoplasia), and red hair color. Obesity: Mutations in the POMC gene can disrupt the production of MSH, which plays a role in regulating appetite and energy balance. Without proper MSH production, individuals with POMC deficiency syndrome may experience excessive hunger and overeating, leading to obesity. Adrenal insufficiency: POMC is also involved in the production of ACTH, which stimulates the adrenal glands to produce cortisol. Cortisol is a crucial hormone involved in stress response and maintaining blood sugar levels. Mutations in the POMC gene can result in reduced ACTH production, leading to adrenal insufficiency. Red hair: One of the cleavage products of POMC is alpha-melanocyte-stimulating hormone (-MSH), which plays a role in determining hair color. Mutations in the POMC gene can disrupt the production of -MSH, resulting in red hair color. To diagnose POMC deficiency syndrome, a next-generation sequencing (NGS) genetic test can be performed. NGS is a high-throughput sequencing method that allows for the simultaneous analysis of multiple genes. In this case, the POMC gene would be specifically targeted for sequencing to identify any mutations or variants that may be responsible for the observed symptoms. It is important to note that POMC deficiency syndrome is a rare disorder, and a genetic test would be necessary to confirm the diagnosis. If you suspect you or someone you know may have POMC deficiency syndrome, it is recommended to consult with a healthcare professional or a genetic counselor for further evaluation and guidance. |
