Short Description

Tuberous sclerosis complex (TSC) involves abnormalities of the Skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas) Brain (subependymal nodules, cortical dysplasias & subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness) Kidney (angiomyolipomas, cysts, renal cell carcinomas) Heart (rhabdomyomas, arrhythmias) Lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). _x000D_ The diagnosis of TSC is established in a proband with Identification of a heterozygous pathogenic variant in the genes TSC1 or TSC2 by molecular genetic testing.

PreTest Information

Duly filled Clinical Exome Testing Requisition Form (Form 36) is mandatory.

Detail Description

Nx Gen Sequencing: Tuberous Sclerosis Complex Test Cost INR: 27495 Symptoms Diagnosis

DNA Labs India offers Nx Gen Sequencing for the diagnosis of Tuberous Sclerosis Complex (TSC), a rare genetic disorder that affects multiple organs in the body. The cost of the test is INR 27495 and it can help in the early diagnosis of TSC.

What is Tuberous Sclerosis Complex?

TSC is a rare genetic disorder that causes the growth of noncancerous tumors in various organs of the body, including the brain, kidneys, heart, lungs, and skin. It affects both men and women and can occur at any age. The severity of the symptoms varies from person to person, and some people may not even know they have the disorder.

Symptoms of TSC

The symptoms of TSC can vary depending on which organs are affected. Some common symptoms include:

• Developmental delays
• Seizures
• Mental retardation
• Behavioral problems
• Skin abnormalities
• Benign tumors in various organs

Not all people with TSC will have all of these symptoms, and some may have only a few. It is important to note that having one or more of these symptoms does not necessarily mean a person has TSC.

Diagnosis of TSC

TSC can be diagnosed through a variety of tests, including Nx Gen Sequencing. This test looks at the DNA of the patient and can identify any mutations or changes in the genes that are associated with TSC. Other tests may include imaging tests, such as MRI or CT scans, to look for tumors in various organs.

Nx Gen Sequencing for TSC

Nx Gen Sequencing is a highly accurate and reliable test that can diagnose TSC in its early stages. It looks at the DNA of the patient and can identify any mutations or changes in the genes that are associated with TSC. The cost of the test is INR 27495, and it can be done at DNA Labs India.

Conclusion

TSC is a rare genetic disorder that can cause a variety of symptoms, including developmental delays, seizures, mental retardation, and skin abnormalities. It can be diagnosed through a variety of tests, including Nx Gen Sequencing. The cost of the test is INR 27495, and it can be done at DNA Labs India. Early diagnosis of TSC can help in better management of the disorder and improve the quality of life of the patient.

If you suspect that you or a loved one may have TSC, it is important to consult a doctor for further evaluation and testing.

Tuberous sclerosis complex (TSC) involves abnormalities of the Skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); Brain (subependymal nodules, cortical dysplasias & subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); Kidney (angiomyolipomas, cysts, renal cell carcinomas); Heart (rhabdomyomas, arrhythmias); Lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). The diagnosis of TSC is established in a proband with Identification of a heterozygous pathogenic variant in the genes TSC1 or TSC2 by molecular genetic testing.