Short Description

NGS genetic DNA test detecets for variant and mutation detection in CPT1B gene for Carnitine palmitoyltransferase 1B deficiency

PreTest Information

Clinical History of Patient who is going for CPT1B Gene Carnitine palmitoyltransferase 1B deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Carnitine palmitoyltransferase 1B deficiency

Detail Description

Understanding CPT1B Gene Carnitine Palmitoyltransferase 1B Deficiency through NGS Genetic DNA Test

CPT1B Gene Carnitine Palmitoyltransferase 1B Deficiency is a rare genetic disorder that affects the body's ability to convert fat into energy. It is caused by mutations in the CPT1B gene, which is responsible for producing a protein that plays a crucial role in the breakdown of fats.

The symptoms of CPT1B Gene Carnitine Palmitoyltransferase 1B Deficiency can range from mild to severe, and can include:

• Muscle weakness
• Low blood sugar
• Liver problems
• Enlarged liver
• Muscle pain

If left untreated, CPT1B Gene Carnitine Palmitoyltransferase 1B Deficiency can lead to serious health complications, including seizures and coma.

Diagnosis of CPT1B Gene Carnitine Palmitoyltransferase 1B Deficiency

CPT1B Gene Carnitine Palmitoyltransferase 1B Deficiency can be diagnosed through a variety of tests, including blood tests, muscle biopsies, and genetic testing.

Genetic testing is the most accurate way to diagnose CPT1B Gene Carnitine Palmitoyltransferase 1B Deficiency. It involves analyzing a person's DNA to identify mutations in the CPT1B gene.

Next-generation sequencing (NGS) is a type of genetic testing that can analyze large amounts of DNA quickly and accurately. NGS can identify mutations in the CPT1B gene that are responsible for CPT1B Gene Carnitine Palmitoyltransferase 1B Deficiency.

NGS Genetic DNA Test for CPT1B Gene Carnitine Palmitoyltransferase 1B Deficiency

The NGS Genetic DNA Test for CPT1B Gene Carnitine Palmitoyltransferase 1B Deficiency is a simple, non-invasive test that involves collecting a small sample of blood or saliva. The sample is then sent to a laboratory for analysis.

The cost of the NGS Genetic DNA Test for CPT1B Gene Carnitine Palmitoyltransferase 1B Deficiency in India is INR 20,000.

The results of the NGS Genetic DNA Test can help healthcare providers diagnose CPT1B Gene Carnitine Palmitoyltransferase 1B Deficiency early, allowing for early intervention and treatment.

Conclusion

CPT1B Gene Carnitine Palmitoyltransferase 1B Deficiency is a rare genetic disorder that can have serious health complications if left untreated. Genetic testing, such as the NGS Genetic DNA Test, can accurately diagnose this condition and enable early intervention and treatment.

At DNA Labs India, we offer a wide range of genetic tests, including the NGS Genetic DNA Test for CPT1B Gene Carnitine Palmitoyltransferase 1B Deficiency. Our tests are accurate, reliable, and affordable, and can provide valuable insights into your health. Contact us today to learn more.