CASK Gene Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia NGS Genetic Test Cost INR: 20000 Symptoms Diagnosis
At DNA Labs India, we offer cutting-edge NGS Genetic Testing for a wide range of genetic disorders, including CASK gene mental retardation and microcephaly with pontine and cerebellar hypoplasia. This test can help diagnose and understand the underlying genetic causes of these disorders, allowing for more effective treatment and management.
What is CASK Gene Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia?
CASK gene mental retardation and microcephaly with pontine and cerebellar hypoplasia is a rare genetic disorder that affects brain development. It is caused by mutations in the CASK gene, which provides instructions for making a protein that plays a critical role in the formation and function of synapses, the junctions between nerve cells in the brain.
Individuals with this disorder typically have intellectual disability, delayed speech and language development, and microcephaly, a condition in which the head is smaller than normal. They may also have seizures, muscle weakness, and difficulty with coordination and balance due to pontine and cerebellar hypoplasia, which is a condition in which the pons and cerebellum, two parts of the brain that control movement and coordination, are smaller than normal.
Symptoms of CASK Gene Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia
The symptoms of CASK gene mental retardation and microcephaly with pontine and cerebellar hypoplasia can vary widely from person to person, but may include:
- Intellectual disability
- Delayed speech and language development
- Microcephaly
- Seizures
- Muscle weakness
- Difficulty with coordination and balance
Diagnosis of CASK Gene Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia
Diagnosis of CASK gene mental retardation and microcephaly with pontine and cerebellar hypoplasia typically involves a combination of clinical evaluation, imaging studies, and genetic testing. Imaging studies, such as magnetic resonance imaging (MRI), can help identify the characteristic features of pontine and cerebellar hypoplasia.
Genetic testing, such as our NGS Genetic Test, can identify mutations in the CASK gene that are associated with this disorder. This information can help confirm the diagnosis and provide valuable information for genetic counseling and family planning.
NGS Genetic Test Cost and Process
At DNA Labs India, our NGS Genetic Test for CASK gene mental retardation and microcephaly with pontine and cerebellar hypoplasia costs INR 20000. The process is simple and non-invasive, involving a blood or saliva sample that is sent to our state-of-the-art laboratory for analysis.
Our team of experienced geneticists and genetic counselors will work with you to interpret the results of the test and provide guidance on the best course of action. We are committed to providing the highest level of care and support to our patients and their families.
Conclusion
CASK gene mental retardation and microcephaly with pontine and cerebellar hypoplasia is a rare genetic disorder that can have a significant impact on a person’s quality of life. Our NGS Genetic Test can help diagnose and understand the underlying genetic causes of this disorder, allowing for more effective treatment and management. If you or a loved one are experiencing symptoms of CASK gene mental retardation and microcephaly with pontine and cerebellar hypoplasia, contact DNA Labs India today to learn more about our testing options.
Test Name | CASK Gene Mental retardation and microcephaly with pontine and cerebellar hypoplasia NGS Genetic Test |
---|---|
Sample type | Blood or Extracted DNA or One drop Blood on FTA Card o |
Test type | Neurologist |
Pre-test Information | Clinical History of Patient who is going for CASK Gene Mental retardation and microcephaly with pontine and cerebellar hypoplasia NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with CASK Gene Mental retardation and microcephaly with pontine and cerebellar hypoplasia |
Disease | Neurological Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for CASK Gene Mental retardation and microcephaly with pontine and cerebellar hypoplasia NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with CASK Gene Mental retardation and microcephaly with pontine and cerebellar hypoplasia |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for CASK Gene Mental retardation and microcephaly with pontine and cerebellar hypoplasia 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.