Short Description

This test is useful for the detection of mutations in Patatin-like Phospholipase domain containing 3 (PNPLA3) and Transmembrane 6 Superfamily member 2 (TM6SF2) gene. This test can detect M variant of PNPLA3 and K variant of TM6SF2. These genes are linked to Non-alcoholic fatty liver disease (NAFLD).

PreTest Information

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

Detail Description

NAFLD - PNPLA3 & TM6SF2 GENOTYPING Test: Cost, Symptoms, and Diagnosis

Non-alcoholic fatty liver disease (NAFLD) is a condition where fat accumulates in the liver without excessive alcohol consumption. It is a prevalent health problem worldwide, with an estimated 25% of the global population affected by it. NAFLD can lead to serious liver damage and even liver failure if left untreated. Early detection and management of NAFLD are crucial for preventing complications.

PNPLA3 & TM6SF2 GENOTYPING Test

PNPLA3 and TM6SF2 are two genes that have been linked to NAFLD. The PNPLA3 gene encodes a protein that plays a crucial role in lipid metabolism, and variants of this gene have been associated with an increased risk of developing NAFLD. The TM6SF2 gene also plays a role in lipid metabolism, and variants of this gene have been linked to the progression of NAFLD to more severe forms of liver disease.

The PNPLA3 & TM6SF2 Genotyping Test is a genetic test that can help identify individuals who are at an increased risk of developing NAFLD or progressing to more severe forms of the disease. The test analyzes a person's DNA to detect specific variants of the PNPLA3 and TM6SF2 genes that are associated with NAFLD. The test is performed using a simple blood sample and is relatively inexpensive, with a cost of around INR 5000.

Symptoms of NAFLD

NAFLD often does not cause any noticeable symptoms in its early stages. However, as the disease progresses, symptoms may start to appear. Some of the common symptoms of NAFLD include:

• Fatigue
• Abdominal discomfort or pain
• Swelling in the abdomen
• Jaundice (yellowing of the skin and eyes)
• Enlarged liver
• Elevated liver enzymes

It is important to note that not everyone with NAFLD will experience these symptoms. Some people may have the disease for years without knowing it.

Diagnosis of NAFLD

NAFLD is typically diagnosed through a combination of medical history, physical examination, and diagnostic tests. The first step in diagnosing NAFLD is to rule out other causes of liver disease, such as excessive alcohol consumption or viral hepatitis. This is usually done through blood tests and imaging studies.

If other causes of liver disease are ruled out, a diagnosis of NAFLD may be made based on the presence of liver fat detected through imaging studies, such as ultrasound or MRI. A liver biopsy may also be performed to confirm the diagnosis and assess the extent of liver damage.

Conclusion

NAFLD is a prevalent health problem that can lead to serious liver damage if left untreated. Early detection and management of NAFLD are crucial for preventing complications. The PNPLA3 & TM6SF2 Genotyping Test is a genetic test that can help identify individuals who are at an increased risk of developing NAFLD or progressing to more severe forms of the disease. If you are experiencing any symptoms of NAFLD, or if you have risk factors for the disease, it is important to talk to your doctor about getting tested.

This test is useful for the detection of mutations in Patatin-like Phospholipase domain containing 3 (PNPLA3) and Transmembrane 6 Superfamily member 2 (TM6SF2) gene. This test can detect M variant of PNPLA3 and K variant of TM6SF2. These genes are linked to Non-alcoholic fatty liver disease (NAFLD).