Fish-Prader-VILLI in Hinjawadi, Pune

Prader-VILLI Syndrome is a rare genetic disorder that affects 1 in 15,000 live births. It causes a range of physical, mental, and behavioural problems, including severe obesity, intellectual disability, and short stature. The syndrome is caused by the absence or loss of function of genes on chromosome 15 inherited from the father. The Fish-Prader-VILLI Panel is a diagnostic test that uses fluorescence in situ hybridization (FISH) to detect the deletion or uniparental disomy of chromosome 15q11-q13 associated with Prader-VILLI Syndrome.

Symptoms of Prader-VILLI Syndrome include:

1. Floppiness and poor muscle tone at birth that can lead to difficulty feeding and slow growth
2. An insatiable appetite leading to severe obesity if food intake is not restricted
3. Intellectual disability ranging from mild to severe
4. Short stature compared to peers
5. Behavioral problems such as stubbornness, temper tantrums, and compulsive behaviours
6. Feeding difficulties in infants
7. Delayed growth in children
8. Learning disabilities

Test Procedure

The FISH test is a simple and non-invasive procedure for detecting chromosomal abnormalities. In the case of Prader-VILLI Syndrome, the test is used to identify the deletion or uniparental disomy of chromosome 15q11-q13 associated with the disease. The test requires a blood sample for testing.

Blood samples are obtained from a vein in the arm. The patient's blood is collected by a healthcare professional and sent to the laboratory for analysis. The test does not require fasting. The procedure involves the hybridization of fluorescent probes to the target DNA sequence, which allows for the visualisation and localisation of specific genes on the chromosome.

The test involves preparing the patient’s DNA for analysis by identifying genes that are involved in the development of this syndrome.

Treatment Options for Positive Diagnosis

If the test results come back positive for Prader-VILLI Syndrome, there are several options for treatment and management of symptoms. These can include growth hormone therapy for short stature, appetite suppressants and dietary restrictions for obesity, and behavioural therapy for intellectual disability and behavioural problems. There is no cure for PWS, but treatment can help manage its symptoms. Treatment options include nutritional support, growth hormone therapy, and behavioural therapy.

Benefits of Early Diagnosis

Early diagnosis and intervention are crucial for the effective management of Prader-VILLI Syndrome. Early detection of PWS can help prevent some of the complications associated with this syndrome. Early intervention allows individuals with PWS to receive appropriate treatment and management, leading to better outcomes.

Booking Tests on Apollo 24|7

Patients can book the Fish-Prader-VILLI Panel on Apollo 24|7's website or mobile app. Patients can register online and book their slot for the test with just a few clicks. The test results are typically available within 8 days of sample collection. Early diagnosis of Prader-VILLI Syndrome can help individuals manage their symptoms and improve their quality of life. Benefits of early diagnosis include early intervention, accurate diagnosis, and reduced healthcare costs.