Short Description

NGS genetic DNA test detecets for variant and mutation detection in TBCE gene for Hypoparathyroidism-retardation-dysmorphism syndrome

PreTest Information

Clinical History of Patient who is going for TBCE Gene Hypoparathyroidism-retardation-dysmorphism syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TBCE Gene Hypoparathyroidism-retardation-dysmorphism syndrome NGS Genetic DNA Test gene TBCE

Detail Description

TBCE Gene Hypoparathyroidism-Retardation-Dysmorphism Syndrome NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

TBCE Gene Hypoparathyroidism-Retardation-Dysmorphism Syndrome, also known as HDR syndrome, is a rare genetic disorder that affects multiple systems in the body. It is caused by mutations in the TBCE gene, which provides instructions for making a protein that is essential for the proper functioning of cells.

The condition is characterized by the triad of hypoparathyroidism, mental retardation, and dysmorphic features. In addition, patients may also experience other symptoms such as short stature, epilepsy, and renal anomalies.

Symptoms

The symptoms of HDR syndrome can vary widely from person to person. The most common symptoms include:

• Hypoparathyroidism: This is a condition in which the parathyroid glands do not produce enough parathyroid hormone, which can lead to low calcium levels in the blood. Symptoms can include muscle cramps, seizures, and tingling in the hands and feet.
• Mental retardation: Patients with HDR syndrome may have intellectual disability ranging from mild to severe.
• Dysmorphic features: This refers to physical abnormalities such as a small head, widely spaced eyes, and a small jaw.
• Short stature: Some patients with HDR syndrome may be shorter than average for their age.
• Epilepsy: Seizures are a common symptom in patients with HDR syndrome.
• Renal anomalies: Some patients may have abnormalities in their kidneys.

Diagnosis

Diagnosis of HDR syndrome can be difficult due to its rarity and variable symptoms. A genetic test can confirm the presence of mutations in the TBCE gene. The test uses Next Generation Sequencing (NGS) technology, which can analyze multiple genes simultaneously and provide more accurate results.

The test can be performed using a blood or saliva sample and typically takes 2-4 weeks to obtain results.

Cost

The cost of the TBCE Gene Hypoparathyroidism-Retardation-Dysmorphism Syndrome NGS Genetic DNA Test in India is approximately INR 20,000. However, the cost may vary depending on the laboratory and location.

Conclusion

Early diagnosis of HDR syndrome is crucial for effective management of symptoms and improvement in quality of life. The TBCE Gene Hypoparathyroidism-Retardation-Dysmorphism Syndrome NGS Genetic DNA Test is a reliable and accurate method for diagnosing the condition. It is important for patients and healthcare providers to be aware of the symptoms and available diagnostic options.

If you suspect that you or a loved one may have HDR syndrome, it is recommended to consult with a genetic counselor or healthcare professional for further evaluation and testing.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for TBCE Gene Hypoparathyroidism-retardation-dysmorphism syndrome NGS Genetic DNA Test