Understanding Chr. 22q13.3 Gene Phelan-McDermid Syndrome and the Importance of NGS Genetic Test
Phelan-McDermid syndrome, also known as 22q13.3 deletion syndrome, is a rare genetic disorder caused by the deletion of a small piece of chromosome 22. This deletion affects the SHANK3 gene, which plays a crucial role in the development and functioning of the brain. As a result, individuals with this syndrome may experience developmental delays, intellectual disability, delayed or absent speech, and other behavioral and neurological issues.
Symptoms of Phelan-McDermid Syndrome
The symptoms of Phelan-McDermid syndrome can vary widely from person to person. Some of the common symptoms include:
- Delayed or absent speech
- Intellectual disability
- Developmental delays
- Low muscle tone
- Autism spectrum disorder
- Seizures
- Aggressive or self-injurious behavior
It is important to note that not all individuals with Phelan-McDermid syndrome will experience all of these symptoms.
Diagnosis of Phelan-McDermid Syndrome
Diagnosing Phelan-McDermid syndrome can be challenging, as the symptoms can be similar to those of other developmental and neurological disorders. However, genetic testing can provide a definitive diagnosis.
The most common genetic test for Phelan-McDermid syndrome is a Next-Generation Sequencing (NGS) Genetic Test. This test can detect the deletion of the SHANK3 gene on chromosome 22 and confirm a diagnosis of Phelan-McDermid syndrome.
Cost of NGS Genetic Test for Phelan-McDermid Syndrome in India
The cost of NGS Genetic Test for Phelan-McDermid syndrome in India can vary depending on the laboratory and the specific test being performed. However, on average, the cost of this test is around INR 20,000.
The Importance of NGS Genetic Test for Phelan-McDermid Syndrome
NGS Genetic Test is a valuable tool for diagnosing Phelan-McDermid syndrome. Early diagnosis can help families access appropriate medical care, therapy, and support services for their loved ones with the condition.
Additionally, genetic testing can help families better understand the genetic basis of the condition and the likelihood of passing it on to future generations. This information can help families make informed decisions about family planning and genetic counseling.
Conclusion
Phelan-McDermid syndrome can be a challenging condition to diagnose and manage. However, with the help of genetic testing, families can access the resources and support they need to provide the best possible care for their loved ones with the condition.
If you suspect that you or a family member may have Phelan-McDermid syndrome, it is important to speak with your healthcare provider about genetic testing and other diagnostic options.
At DNA Labs India, we offer a range of genetic testing services, including NGS Genetic Test for Phelan-McDermid syndrome. Contact us today to learn more about how we can help you.
| Test Name | chr. 22q13.3 Gene Phelan-McDermid 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 chr. 22q13.3 Gene Phelan-McDermid syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with chr. 22q13.3 Gene Phelan-McDermid syndrome NGS Genetic Test gene chr. 22q13.3 |
| Disease | Dysmorphology |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for chr. 22q13.3 Gene Phelan-McDermid syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with chr. 22q13.3 Gene Phelan-McDermid syndrome NGS Genetic Test gene chr. 22q13.3 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for chr. 22q13.3 Gene Phelan-McDermid 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.
