Short Description

NGS genetic DNA test detecets for variant and mutation detection in LPIN1 gene for Myoglobinuria acute recurrent

PreTest Information

Clinical History of Patient who is going for LPIN1 Gene Myoglobinuria acute recurrent NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with LPIN1 Gene Myoglobinuria acute recurrent

Detail Description

LPIN1 Gene Myoglobinuria Acute Recurrent NGS Genetic DNA Test Cost INR 20000 Symptoms Diagnosis

LPIN1 gene myoglobinuria acute recurrent is a rare genetic disorder that affects the muscles and results in muscle pain, weakness, and breakdown. It is caused by mutations in the LPIN1 gene, which provides instructions for making an enzyme called lipin-1. This enzyme plays a crucial role in the breakdown and storage of fats in the body.

People with LPIN1 gene myoglobinuria acute recurrent have muscle cells that are unable to properly break down fats, leading to the accumulation of toxic fatty acids in the muscles. This, in turn, causes muscle damage and breakdown.

Symptoms of LPIN1 Gene Myoglobinuria Acute Recurrent

The symptoms of LPIN1 gene myoglobinuria acute recurrent can vary from person to person, but commonly include:

• Muscle pain
• Muscle weakness
• Muscle breakdown (rhabdomyolysis)
• Dark urine (due to the presence of myoglobin)
• Fatigue

Diagnosis of LPIN1 Gene Myoglobinuria Acute Recurrent

LPIN1 gene myoglobinuria acute recurrent is diagnosed through a combination of clinical evaluation, blood tests, and genetic testing.

Blood tests can reveal elevated levels of muscle enzymes, such as creatine kinase, and myoglobin in the blood. Genetic testing can identify mutations in the LPIN1 gene that are associated with the disorder.

NGS Genetic DNA Test for LPIN1 Gene Myoglobinuria Acute Recurrent

Next-generation sequencing (NGS) genetic DNA testing is a powerful tool for diagnosing LPIN1 gene myoglobinuria acute recurrent. NGS can identify mutations in the LPIN1 gene that are associated with the disorder with high accuracy and speed.

The cost of NGS genetic DNA testing for LPIN1 gene myoglobinuria acute recurrent in India is typically around INR 20,000.

Conclusion

LPIN1 gene myoglobinuria acute recurrent is a rare genetic disorder that affects the muscles and can cause muscle pain, weakness, and breakdown. Diagnosis is typically made through a combination of clinical evaluation, blood tests, and genetic testing. NGS genetic DNA testing is a powerful tool for diagnosing the disorder with high accuracy and speed, and typically costs around INR 20,000 in India.

If you suspect that you or a loved one may have LPIN1 gene myoglobinuria acute recurrent, it is important to speak with a healthcare professional for proper diagnosis and management.

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 LPIN1 Gene Myoglobinuria acute recurrent NGS Genetic DNA Test