Tuberous Sclerosis (TSC1) Sequencing Test Cost & Procedure

Tuberous sclerosis, also known as the tuberous sclerosis complex (TSC), is a rare hereditary condition that results in the development of tumors throughout the body. These growths are benign growths. Non Cancerous tumors, often known as benign tumors, are unanticipated overgrowths of cells and tissue.

Tuberous sclerosis has no known treatment and there is no way to forecast how severe it will get over time. However, there are remedies to control symptoms.

Symptoms

The symptoms of tuberous sclerosis are brought on by non-cancerous growths in various body organs, most frequently the skin, brain, eyes, kidneys, heart, and lungs. However, any area of the body could be impacted. The rigor of the manifestation can vary pivoting on the extent or locale of the expansions.

Although the signs and symptoms of tuberous sclerosis vary from person to person, they may include:

Skin alterations: Most frequently, skin changes occur. These include spots of skin that are paler and little patches of skin that are thicker, smoother, or bumpier. There may be elevated, discolored regions of skin on the forehead. There may be tiny, soft lumps under or around the nails. Childhood-onset facial growths that resemble acne are rather prevalent.

Seizures. Seizures may be related to brain growth. Frequently, a seizure is the initial sign of tuberous sclerosis. Infantile spasm, a common type of seizure in young children, is characterized by rigid arms and legs as well as an arched back and head.

Behavioral issues: Hyperactivity, self-harm or violence, as well as challenges with social and emotional adjustment, are examples of typical behavioral problems.

kidney issues: Kidney growths are frequent, and as people age, more growths may appear.

TSC1 Sequencing Test

• Type of condition: epilepsy
• Tuberous sclerosis will be checked for.
• TSC1 is a gene included.

Technical Details

Clinical Importance: Identifies changes in the TSC1 gene's sequence in patients with tuberous sclerosis, a condition marked by a variety of symptoms including seizures, developmental delay, skin lesions, cerebral tubers, and hamartomas throughout the body.

Next Generation Sequencing is the methodology.

Requirements for Specimens

Please write two patient identifying numbers on each specimen tube. The requisition form must also include these kinds of identification.

Type of Specimen: Whole blood

Sample Stability: 10 days at room temperature, 10 days in a refrigerator, and unacceptable in a freezer.

Specimen Conditions: 8 mL (6 mL minimum) In two EDTA tubes with lavender tops, entire blood was obtained. Children ages 0 to 3: 2 mL (1 mL minimum)

Instructions: Increased blood volumes guarantee acceptable DNA concentrations, which vary depending on WBC, specimen quality, and the requirement for confirmatory tests. Patients ages 0 to 3 had increased WBC, which produces more DNA per milliliter of blood.