KIF1BP Gene Goldberg-Shprintzen Megacolon Syndrome NGS Genetic Test
Goldberg-Shprintzen megacolon syndrome, also known as GOSHS, is a rare genetic disorder that affects several parts of the body. It is caused by mutations in the KIF1BP gene. This gene provides instructions for making a protein that is involved in the development and maintenance of nerve cells.
Individuals with GOSHS may experience a wide range of symptoms, including:
- Abnormal curvature of the spine (scoliosis)
- Intellectual disability
- Abnormalities in the structure of the brain
- Difficulty with speech and language
- Abnormalities in the size and function of the colon
The diagnosis of GOSHS can be challenging due to the rarity of the condition and the variability of symptoms. Genetic testing is often necessary to confirm a diagnosis.
NGS Genetic Test
Next-generation sequencing (NGS) is a powerful tool that allows for the analysis of multiple genes simultaneously. In the case of GOSHS, NGS can be used to sequence the KIF1BP gene and identify any mutations that may be present.
The cost of an NGS Genetic Test for GOSHS in India is typically around INR 20,000. This cost may vary depending on the specific testing facility and any additional services that may be required.
Symptoms of GOSHS
As mentioned earlier, GOSHS can affect several parts of the body, leading to a wide range of symptoms. Some of the most common symptoms include:
- Abnormal curvature of the spine (scoliosis)
- Intellectual disability
- Abnormalities in the structure of the brain
- Difficulty with speech and language
- Abnormalities in the size and function of the colon
It is important to note that not all individuals with GOSHS will experience all of these symptoms. Additionally, the severity of symptoms can vary widely between individuals.
Diagnosis of GOSHS
The diagnosis of GOSHS can be challenging due to the rarity of the condition and the variability of symptoms. In many cases, a diagnosis will require genetic testing to identify mutations in the KIF1BP gene.
Other diagnostic tests that may be used include:
- Magnetic resonance imaging (MRI) of the brain
- X-rays of the spine
- Colonoscopy
These tests can help to identify any structural abnormalities in the brain, spine, or colon that may be associated with GOSHS.
In Conclusion
GOSHS is a rare genetic disorder that can affect several parts of the body, leading to a wide range of symptoms. Genetic testing, including NGS, is often necessary to confirm a diagnosis. The cost of an NGS Genetic Test for GOSHS in India is typically around INR 20,000. If you or a loved one are experiencing symptoms that may be associated with GOSHS, it is important to speak with a healthcare provider to discuss testing and treatment options.
At DNA Labs India, we offer a wide range of genetic testing services, including NGS Genetic Testing for GOSHS. Our team of experienced genetic counselors and scientists can help you navigate the testing process and provide guidance and support throughout your journey. Contact us today to learn more.
| Test Name | KIF1BP Gene Goldberg-Shprintzen megacolon syndrome NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Test type | Pediatrics |
| Pre-test Information | Clinical History of Patient who is going for KIF1BP Gene Goldberg-Shprintzen megacolon syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with KIF1BP Gene Goldberg-Shprintzen megacolon syndrome NGS Genetic Test gene KIF1BP |
| Disease | Dysmorphology |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for KIF1BP Gene Goldberg-Shprintzen megacolon syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with KIF1BP Gene Goldberg-Shprintzen megacolon syndrome NGS Genetic Test gene KIF1BP |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for KIF1BP Gene Goldberg-Shprintzen megacolon 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.
