Short Description

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct neurodevelopmental genetic disorders that map to 15q11-q13. The primary phenotypes are attributable to loss of expression of imprinted genes within this region which can arise by means of a number of mechanisms. The most sensitive single approach to diagnosing both PWS and AS is to study methylation patterns within 15q11-q13.

PreTest Information

Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.

Detail Description

PRADER-WILLI SYNDROME MUTATION DETECTION METHYLATION SPECIFIC PCR Test: Symptoms, Diagnosis, and Cost

Prader-Willi Syndrome (PWS) is a rare genetic disorder that affects approximately 1 in 10,000 to 1 in 25,000 people worldwide. It is caused by the loss of function of certain genes in the chromosome 15q11-q13 region. PWS is characterized by intellectual disability, short stature, hypotonia, hyperphagia, and obesity. The diagnosis of PWS is based on clinical features and genetic testing, including methylation-specific PCR (MS-PCR) to detect mutations in the chromosome 15q11-q13 region. DNA Labs India offers MS-PCR testing for PWS at a cost of INR 11,000.

Symptoms of Prader-Willi Syndrome

PWS is a complex disorder with a wide range of symptoms that can vary in severity. The most common symptoms of PWS include:

• Intellectual disability
• Short stature
• Hypotonia (poor muscle tone)
• Hyperphagia (excessive appetite)
• Obesity
• Sleep apnea
• Delayed puberty
• Behavioral problems
• Speech and language delays
• Skin picking

Not all individuals with PWS will exhibit all of these symptoms, and the severity of symptoms can vary from person to person.

Diagnosis of Prader-Willi Syndrome

The diagnosis of PWS is typically based on clinical features and genetic testing. Clinical features that may suggest a diagnosis of PWS include:

• Hypotonia (poor muscle tone)
• Feeding difficulties in infancy
• Growth hormone deficiency
• Delayed motor milestones
• Excessive appetite and weight gain
• Behavioral problems

Genetic testing for PWS typically involves methylation-specific PCR (MS-PCR) to detect mutations in the chromosome 15q11-q13 region. MS-PCR is a highly sensitive and specific test that can detect PWS mutations in up to 99% of cases.

MS-PCR Test Cost

The cost of MS-PCR testing for PWS at DNA Labs India is INR 11,000. This includes the cost of sample collection, processing, and analysis.

Conclusion

PWS is a rare genetic disorder that can cause a wide range of symptoms, including intellectual disability, short stature, hypotonia, hyperphagia, and obesity. The diagnosis of PWS is based on clinical features and genetic testing, including MS-PCR to detect mutations in the chromosome 15q11-q13 region. DNA Labs India offers MS-PCR testing for PWS at a cost of INR 11,000. If you suspect that you or a loved one may have PWS, it is important to consult with a healthcare professional for an accurate diagnosis and appropriate treatment.

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct neurodevelopmental genetic disorders that map to 15q11-q13. The primary phenotypes are attributable to loss of expression of imprinted genes within this region which can arise by means of a number of mechanisms. The most sensitive single approach to diagnosing both PWS and AS is to study methylation patterns within 15q11-q13.