Short Description

NGS genetic DNA test detecets for variant and mutation detection in UGT1A1 gene for Hyperbilirubinemia, familial transient neonatal

PreTest Information

Clinical History of Patient who is going for UGT1A1 Gene Hyperbilirubinemia, familial transient neonatal NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with UGT1A1 Gene Hyperbilirubinemia, familial transient neonatal NGS Genetic DNA Test gene UGT1A1

Detail Description

UGT1A1 Gene Hyperbilirubinemia: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Hyperbilirubinemia is a medical condition in which the levels of bilirubin in the blood are elevated. Bilirubin is a yellow pigment that is produced when red blood cells break down. Normally, it is processed by the liver and excreted from the body. However, in some cases, the liver may not be able to process bilirubin effectively, leading to an accumulation of bilirubin in the blood. This can cause jaundice, a yellowing of the skin and eyes, as well as other symptoms.

One of the genetic causes of hyperbilirubinemia is UGT1A1 gene mutations. UGT1A1 encodes an enzyme that helps the liver process bilirubin. Mutations in this gene can lead to a condition called familial transient neonatal hyperbilirubinemia (FTN-HBL), which is characterized by jaundice in newborns. FTN-HBL is a benign condition that usually resolves on its own within a few weeks, but it can cause concern for parents and healthcare providers.

Symptoms of UGT1A1 Gene Hyperbilirubinemia

FTN-HBL is typically diagnosed within the first few days of life. Symptoms may include:

• Yellowing of the skin and whites of the eyes (jaundice)
• Pale stools
• Dark urine
• Difficulty feeding
• Lethargy or decreased activity

These symptoms may be mild or severe, depending on the level of bilirubin in the blood.

Diagnosis of UGT1A1 Gene Hyperbilirubinemia

FTN-HBL is usually diagnosed based on clinical symptoms and a blood test to measure the level of bilirubin in the blood. In some cases, genetic testing may be recommended to confirm the diagnosis and identify the specific UGT1A1 gene mutation. This can help healthcare providers determine the best course of treatment and provide information to parents about the likelihood of passing on the mutation to future children.

NGS Genetic DNA Test Cost

Next-generation sequencing (NGS) is a type of genetic testing that can identify multiple gene mutations at once. This can be useful for diagnosing conditions like FTN-HBL that are caused by mutations in multiple genes. The cost of an NGS genetic DNA test for UGT1A1 gene mutations in India is typically around INR 20,000. However, the cost may vary depending on the specific test and the healthcare provider.

Conclusion

FTN-HBL is a common genetic cause of hyperbilirubinemia in newborns. While it is usually a benign condition that resolves on its own, it can cause concern for parents and healthcare providers. Diagnosis is typically based on clinical symptoms and a blood test, but genetic testing may be recommended in some cases. NGS genetic DNA testing can help identify multiple gene mutations at once and is typically available at a cost of around INR 20,000 in India.

If you suspect that your newborn may have hyperbilirubinemia or FTN-HBL, it is important to seek medical attention promptly. Your healthcare provider can help diagnose the condition and provide appropriate treatment and follow-up care.

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 UGT1A1 Gene Hyperbilirubinemia, familial transient neonatal NGS Genetic DNA Test