Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC2A2 gene for Fanconi-Bickel syndrome

PreTest Information

Clinical History of Patient who is going for SLC2A2 Gene Fanconi-Bickel syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC2A2 Gene Fanconi-Bickel syndrome NGS Genetic DNA Test gene SLC2A2

Detail Description

SLC2A2 Gene Fanconi-Bickel Syndrome NGS Genetic DNA Test: Symptoms, Diagnosis and Cost in India

Fanconi-Bickel Syndrome (FBS) is a rare genetic disorder that affects the metabolism of carbohydrates and sugars in the body. It is caused by mutations in the SLC2A2 gene, which encodes for a glucose transporter protein called GLUT2. This protein is responsible for transporting glucose from the bloodstream into the liver, pancreas, and small intestine.

FBS is inherited in an autosomal recessive manner, which means that both parents must be carriers of the mutated gene for their child to develop the disorder. The symptoms of FBS usually appear in infancy or early childhood and include:

• Failure to thrive
• Abdominal swelling and distension
• Recurrent episodes of hypoglycemia (low blood sugar)
• Delayed growth and development
• Bone abnormalities
• Enlarged liver and spleen

If left untreated, FBS can lead to severe liver and kidney damage, as well as developmental delays and intellectual disability.

Diagnosis of FBS

The diagnosis of FBS is usually made based on clinical symptoms, as well as genetic testing. A DNA test can be performed to identify mutations in the SLC2A2 gene. This test can be done using Next-Generation Sequencing (NGS) technology, which allows for the simultaneous analysis of multiple genes.

The cost of an NGS genetic DNA test for FBS in India is typically around INR 20,000. However, the cost may vary depending on the specific laboratory and testing method used.

Treatment of FBS

There is no cure for FBS, but the symptoms can be managed through a combination of dietary and medical interventions. Patients with FBS typically require a high-carbohydrate, low-protein diet, along with regular monitoring of blood glucose levels. Some patients may also require medications to help regulate blood sugar levels.

In some cases, liver and kidney transplantation may be necessary to treat the complications of FBS.

Conclusion

Fanconi-Bickel Syndrome is a rare genetic disorder that affects the metabolism of carbohydrates and sugars in the body. It is caused by mutations in the SLC2A2 gene, and can lead to severe liver and kidney damage if left untreated. Diagnosis of FBS can be made through genetic testing, and treatment typically involves a combination of dietary and medical interventions. The cost of an NGS genetic DNA test for FBS in India is typically around INR 20,000.

If you suspect that you or a loved one may have FBS, it is important to seek medical advice and testing as soon as possible. Early diagnosis and treatment can help to prevent or minimize the complications of this rare disorder.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for SLC2A2 Gene Fanconi-Bickel syndrome NGS Genetic DNA Test