Nx GEN SEQUENCING: 4H SYNDROME Test Cost & Symptoms Diagnosis | DNA Labs India
4H Syndrome is a rare genetic disorder that affects the nervous system. It is caused by mutations in the POLR3A, POLR3B, and POLR1C genes and is characterized by four main symptoms:
- Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (HABC)
- Hypodontia (missing teeth)
- Hypogonadotropic Hypogonadism (reduced hormone production)
- Microcephaly (small head size)
The 4H Syndrome Test is a genetic test that uses Nx GEN SEQUENCING technology to analyze the patient’s DNA for mutations in the POLR3A, POLR3B, and POLR1C genes. This test is offered by DNA Labs India at a cost of INR 23,400.
The symptoms of 4H Syndrome can vary greatly among affected individuals, but the most common symptoms are:
- Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (HABC): This is a neurological condition that affects the white matter of the brain. It can cause problems with movement, muscle tone, and balance.
- Hypodontia: This is a dental condition that causes missing teeth. It can affect both baby teeth and permanent teeth.
- Hypogonadotropic Hypogonadism: This is a hormonal condition that affects the reproductive system. It can cause delayed puberty, infertility, and other reproductive problems.
- Microcephaly: This is a condition in which the head size is smaller than normal. It can cause developmental delays and intellectual disabilities.
The diagnosis of 4H Syndrome involves a physical examination, medical history, and genetic testing. The Nx GEN SEQUENCING test offered by DNA Labs India provides accurate results and helps diagnose rare genetic disorders like 4H Syndrome.
If you suspect that you or someone you know may have 4H Syndrome, it is important to seek medical attention and genetic testing. DNA Labs India offers comprehensive genetic testing services that can provide accurate results and help diagnose rare genetic disorders.
4H syndrome is a genetic disorder that displays an autosomal recessive inheritance pattern. It is characterized by hypomyelination, hypogonadotropic hypogonadism and hypodontia. It is caused due to mutations in POLR3A and POLR3B genes. These patients suffer from ataxia, dysarthria, delayed dentition & normal puberty development.
| Test Name | Nx Gen Sequencing: 4H Syndrome Test |
|---|---|
| Sample type | Submit 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. |
| Test type | Neurologist, Dentist, Pediatrician |
| Pre-test Information | Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. |
| Disease | Multiple genetic defects |
| Method | NGS, Sanger sequencing |
| Purpose | POLR3A, POLR3B |
| Preparation | Room Temperature: 6 hrs, Refrigerator:72 hrs, Frozen: NA |
| Fasting | Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. |
| Get Reports | Sample Daily by 9 am; Report 40 Working days |
| Test Price | INR ₹ 23400 |
Note: We offer free home sample collection for online bookings for Nx Gen Sequencing: 4H Syndrome Test and the test costs a special discounted price of 23400 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.