TBCE Gene Hypoparathyroidism-Retardation-Dysmorphism Syndrome NGS Genetic 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 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 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 Test
| Test Name | TBCE Gene Hypoparathyroidism-retardation-dysmorphism syndrome NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Test type | General Physician |
| Pre-test Information | Clinical History of Patient who is going for TBCE Gene Hypoparathyroidism-retardation-dysmorphism syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TBCE Gene Hypoparathyroidism-retardation-dysmorphism syndrome NGS Genetic Test gene TBCE |
| Disease | Hepatology Nephrology Endocrinology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for TBCE Gene Hypoparathyroidism-retardation-dysmorphism syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TBCE Gene Hypoparathyroidism-retardation-dysmorphism syndrome NGS Genetic Test gene TBCE |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for TBCE Gene Hypoparathyroidism-retardation-dysmorphism syndrome NGS Genetic Test and the test costs a special discounted price of 20000 INR across India. The cities where this service is available include Mumbai, Delhi, Bangalore, Hyderabad, Ahmedabad, Chennai, Kolkata, Surat, Pune, Jaipur, Lucknow, Kanpur, Nagpur, Indore, Thane, Bhopal, Visakhapatnam, Pimpri-Chinchwad, Patna, Vadodara, Ghaziabad, Ludhiana, Agra, Nashik, Faridabad, Meerut, Rajkot, Kalyan-Dombivali, Vasai-Virar, Varanasi, Srinagar, Aurangabad, Dhanbad, Amritsar, Navi Mumbai, Prayagraj, Howrah, Ranchi, Jabalpur, Gwalior, Coimbatore, Vijayawada, Jodhpur, Madurai, Raipur, Kota, Guwahati, Chandigarh, Thiruvananthapuram, Solapur, Hubballi-Dharwad, Tiruchirappalli, Tiruppur, Moradabad, Mysore, Bareily, Gurgaon, Aligarh, Jalandhar, Bhubaneswar, Salem, Mira-Bhayandar, Warangal , Guntur , Bhiwandi, Saharanpur, Gorakhpur, Bikaner, Amravati, Noida, Jamshedpur, Bhilai, Cuttack, Firozabad, Kochi, Nellore , Bhavnagar, Dehradun, Durgapur, Asansol, Rourkela, Nanded, Kolhapur, Ajmer, Akola, Gulbarga, Jamnagar, Ujjain, Loni, Siliguri, Jhansi, Ulhasnagar, Jammu, Sangli-Miraj & Kupwad, Mangalore, Erode10, Belgaum, Ambattur, Tirunelveli, Malegaon, Gaya, Jalgaon, Udaipur, Maheshtala, Davanagere, Kozhikode, Kurnool, Rajpur Sonarpur, Rajahmundry , Bokaro, South Dumdum, Bellary, Patiala, Gopalpur, Agartala, Bhagalpur, Muzaffarnagar, Bhatpara, Panihati, Latur, Dhule, Tirupati , Rohtak, Korba, Bhilwara, Berhampur, Muzaffarpur, Ahmednagar, Mathura, Kollam, Avadi, Kadapa, Kamarhati, Sambalpur, Bilaspur, Shahjahanpur, Satara, Bijapur, Rampur, Shivamogga, Chandrapur, Junagadh, Thrissur, Alwar, Bardhaman, Kulti, Kakinada, Nizamabad, Parbhani, Tumkur, Khammam, Ozhukarai, Bihar Sharif, Panipat, Darbhanga, Bally, Aizawl, Dewas, Ichalkaranji, Karnal, Bathinda, Jalna, Eluru, Kirari Suleman Nagar, Barasat, Purnia, Satna, Mau, Sonipat, Farrukhabad, Sagar, Rourkela, Durg, Imphal, Ratlam, Hapur, Arrah, Karimnagar, Anantapur, Etawah, Ambernath, North Dumdum, Bharatpur, Begusarai, New Delhi, Gandhidham, Baranagar, Tiruvottiyur, Puducherry, Sikar, Thoothukudi, Rewa, Mirzapur, Raichur, Pali, Ramagundam , Haridwar, Vijayanagaram, Katihar, Nagarcoil, Sri Ganganagar, Karawal Nagar, Mango, Thanjavur, Bulandshahr, Uluberia, Murwara, Sambhal, Singrauli, Nadiad, Secunderabad, Naihati, Yamunanagar, Bidhan Nagar, Pallavaram, Bidar, Munger, Panchkula, Burhanpur, Raurkela Industrial Township, Kharagpur, Dindigul, Gandhinagar, Hospet, Nangloi Jat, Malda, Ongole, Deoghar, Chapra, Haldia, Khandwa, Nandyal, Chittoor , Morena, Amroha, Anand, Bhind, Bhalswa Jahangir Pur, Madhyamgram, Bhiwani, Navi Mumbai Panvel Raigad, Baharampur, Ambala, Morvi, Fatehpur, Rae Bareli, Khora, Bhusawal, Orai, Bahraich, Vellore, Mahesana, Sambalpur, Raiganj, Sirsa, Danapur, Serampore, Sultan Pur Majra, Guna, Jaunpur, Panvel, Shivpuri, Surendranagar Dudhrej, Unnao, Hugli and Chinsurah, Alappuzha, Kottayam, Machilipatnam, Shimla, Adoni, Tenali, Proddatur, Saharsa, Hindupur, Sasaram, Hajipur, Bhimavaram, Dehri, Madanapalle, Siwan, Bettiah, Guntakal, Srikakulam, Motihari, Dharmavaram, Gudivada, Narasaraopet, Bagaha, Miryalaguda, Tadipatri, Kishanganj, Karaikudi, Suryapet, Jamalpur, Kavali, Tadepalligudem, Amaravati, Buxar, Jehanabad, Aurangabad.
