FISH – PRADER WILLI SYNDROME SNRPN Test
Test Name: FISH – PRADER WILLI SYNDROME SNRPN Test
Components: Chromosome & FISH analysis Requisition Form (Form 17)
Price: 1500.0 AED
Sample Condition: 5 mL (3 mL min.) whole blood from 1 Green Top (Sodium Heparin) tube. Ship at 18-22°C. DO NOT FREEZE.
Report Delivery: Sample Daily by 4 pm; Report 4 Working days
Method: FISH
Test Type: Genetic Disorders
Doctor: Pediatrician
Test Department: CYTOGENETICS
Pre Test Information: Duly filled Chromosome & FISH analysis Requisition Form (Form 17) is mandatory.
Test Details:
Fish – Prader-Willi Syndrome / SNRPN Test is a genetic test used to diagnose Prader-Willi syndrome (PWS). PWS is a rare genetic disorder that affects various aspects of development, including growth, metabolism, and behavior.
The test utilizes fluorescence in situ hybridization (FISH) technology to analyze the DNA in a patient’s cells for abnormalities in the SNRPN gene. The SNRPN gene is located on chromosome 15 and is typically deleted or unexpressed in individuals with PWS.
During the test, a sample of the patient’s cells, usually obtained through a blood sample, is collected. The cells are then fixed onto a slide and treated with fluorescently labeled DNA probes that specifically bind to the SNRPN gene region on chromosome 15. If the SNRPN gene is present and functioning normally, the probes will bind and emit a fluorescent signal.
The slide is then examined under a fluorescent microscope, and the presence or absence of the fluorescent signal is analyzed. If no signal is detected, it indicates a deletion or unexpressed SNRPN gene, confirming a diagnosis of PWS.
The FISH – Prader-Willi Syndrome / SNRPN Test is a reliable and accurate method for diagnosing PWS. It can be performed on individuals of all ages, including newborns, and is particularly useful when other genetic tests, such as DNA methylation analysis, have yielded inconclusive results.
Early diagnosis of PWS is crucial for appropriate medical management and intervention. Genetic testing, including the FISH – Prader-Willi Syndrome / SNRPN Test, plays a vital role in identifying individuals with PWS, enabling early intervention, and providing necessary support and care.
Test Name | FISH – PRADER WILLI SYNDROME SNRPN Test |
---|---|
Components | |
Price | 1500.0 AED |
Sample Condition | 5 mL (3 mL min.) whole blood from 1 Green Top (Sodium Heparin) tube. Ship at 18-22?\u00f8C. DO NOT FREEZE. Duly filled Chromosome & FISH analysis Requisition Form (Form 17) is mandatory. |
Report Delivery | Sample Daily by 4 pm; Report 4 Working days |
Method | FISH |
Test type | Genetic Disorders |
Doctor | Pediatrician |
Test Department: | CYTOGENETICS |
Pre Test Information | Duly filled Chromosome & FISH analysis Requisition Form (Form 17) is mandatory. |
Test Details |
Fish – Prader-Willi Syndrome / SNRPN Test is a genetic test used to diagnose Prader-Willi syndrome (PWS). PWS is a rare genetic disorder that affects various aspects of development, including growth, metabolism, and behavior. The test utilizes fluorescence in situ hybridization (FISH) technology to analyze the DNA in a patient’s cells for abnormalities in the SNRPN gene. The SNRPN gene is located on chromosome 15 and is typically deleted or unexpressed in individuals with PWS. During the test, a sample of the patient’s cells, usually obtained through a blood sample, is collected. The cells are then fixed onto a slide and treated with fluorescently labeled DNA probes that specifically bind to the SNRPN gene region on chromosome 15. If the SNRPN gene is present and functioning normally, the probes will bind and emit a fluorescent signal. The slide is then examined under a fluorescent microscope, and the presence or absence of the fluorescent signal is analyzed. If no signal is detected, it indicates a deletion or unexpressed SNRPN gene, confirming a diagnosis of PWS. The FISH – Prader-Willi Syndrome / SNRPN Test is a reliable and accurate method for diagnosing PWS. It can be performed on individuals of all ages, including newborns, and is particularly useful when other genetic tests, such as DNA methylation analysis, have yielded inconclusive results. Early diagnosis of PWS is crucial for appropriate medical management and intervention. Genetic testing, including the FISH – Prader-Willi Syndrome / SNRPN Test, plays a vital role in identifying individuals with PWS, enabling early intervention, and providing necessary support and care. |