GATA3 Gene Hypoparathyroidism Sensorineural Deafness and Renal Dysplasia Genetic Test
Cost: AED 4400.0
Test Details:
The GATA3 gene is associated with a genetic disorder called hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome. This syndrome is characterized by the presence of three main features:
- Hypoparathyroidism: This refers to underactivity or absence of the parathyroid glands, which leads to low levels of calcium in the blood. Symptoms may include muscle cramps, seizures, numbness or tingling in the hands and feet, and fatigue.
- Sensorineural deafness: Individuals with HDR syndrome often experience hearing loss, specifically a type known as sensorineural deafness. This means that there is damage to the inner ear or the nerve pathways that transmit sound to the brain. The severity of hearing loss can vary among affected individuals.
- Renal dysplasia: This refers to abnormal development of the kidneys during fetal development. In HDR syndrome, renal dysplasia can lead to kidney malformations and impaired kidney function. This can result in various symptoms, including urinary tract infections, high blood pressure, and kidney failure.
Test Components:
- 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 GATA3 Gene Hypoparathyroidism, sensorineural deafness, and renal dysplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GATA3 Gene Hypoparathyroidism, sensorineural deafness, and renal dysplasia NGS Genetic DNA Test gene GATA3.
Test Details:
To diagnose HDR syndrome, a genetic test called Next-Generation Sequencing (NGS) can be performed. NGS is a technique that allows for the rapid and simultaneous sequencing of multiple genes, including the GATA3 gene. By analyzing the DNA sequence of the GATA3 gene, mutations or variations can be identified, confirming the diagnosis of HDR syndrome.
Genetic testing for HDR syndrome can help with accurate diagnosis, genetic counseling, and appropriate management of the condition. Treatment options for HDR syndrome typically involve managing the symptoms associated with each feature of the syndrome, such as calcium and vitamin D supplementation for hypoparathyroidism and hearing aids or cochlear implants for sensorineural deafness. Renal dysplasia may require specific interventions depending on the severity of kidney dysfunction.
It is important to consult with a healthcare professional or genetic counselor for a comprehensive evaluation and guidance regarding genetic testing and management options for individuals suspected of having HDR syndrome.
| Test Name | GATA3 Gene Hypoparathyroidism sensorineural deafness and renal dysplasia 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 GATA3 Gene Hypoparathyroidism, sensorineural deafness, and renal dysplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GATA3 Gene Hypoparathyroidism, sensorineural deafness, and renal dysplasia NGS Genetic DNA Test gene GATA3 |
| Test Details |
The GATA3 gene is associated with a genetic disorder called hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome. This syndrome is characterized by the presence of three main features: 1. Hypoparathyroidism: This refers to underactivity or absence of the parathyroid glands, which leads to low levels of calcium in the blood. Symptoms may include muscle cramps, seizures, numbness or tingling in the hands and feet, and fatigue. 2. Sensorineural deafness: Individuals with HDR syndrome often experience hearing loss, specifically a type known as sensorineural deafness. This means that there is damage to the inner ear or the nerve pathways that transmit sound to the brain. The severity of hearing loss can vary among affected individuals. 3. Renal dysplasia: This refers to abnormal development of the kidneys during fetal development. In HDR syndrome, renal dysplasia can lead to kidney malformations and impaired kidney function. This can result in various symptoms, including urinary tract infections, high blood pressure, and kidney failure. To diagnose HDR syndrome, a genetic test called Next-Generation Sequencing (NGS) can be performed. NGS is a technique that allows for the rapid and simultaneous sequencing of multiple genes, including the GATA3 gene. By analyzing the DNA sequence of the GATA3 gene, mutations or variations can be identified, confirming the diagnosis of HDR syndrome. Genetic testing for HDR syndrome can help with accurate diagnosis, genetic counseling, and appropriate management of the condition. Treatment options for HDR syndrome typically involve managing the symptoms associated with each feature of the syndrome, such as calcium and vitamin D supplementation for hypoparathyroidism and hearing aids or cochlear implants for sensorineural deafness. Renal dysplasia may require specific interventions depending on the severity of kidney dysfunction. It is important to consult with a healthcare professional or genetic counselor for a comprehensive evaluation and guidance regarding genetic testing and management options for individuals suspected of having HDR syndrome. |
