Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC27A4 gene for Ichthyosis prematurity syndrome

PreTest Information

Clinical History of Patient who is going for SLC27A4 Gene Ichthyosis prematurity syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC27A4 Gene Ichthyosis prematurity syndrome NGS Genetic DNA Test gene SLC27A4

Detail Description

SLC27A4 Gene Ichthyosis Prematurity Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

DNA Labs India offers NGS Genetic DNA testing for SLC27A4 Gene Ichthyosis Prematurity Syndrome at a cost of INR 20000. This test helps in detecting mutations in the SLC27A4 gene which is responsible for the development of Ichthyosis Prematurity Syndrome.

What is SLC27A4 Gene Ichthyosis Prematurity Syndrome?

SLC27A4 Gene Ichthyosis Prematurity Syndrome is a rare genetic disorder that affects the skin and other organs of the body. It is caused by mutations in the SLC27A4 gene which is responsible for encoding a protein called long-chain fatty acid-CoA ligase 4 (FACL4). FACL4 is involved in the breakdown and metabolism of long-chain fatty acids in the body. Mutations in the SLC27A4 gene can lead to a deficiency of FACL4 which can result in the accumulation of fatty acids in the body. This can cause a range of symptoms including dry, scaly skin, respiratory distress, and developmental delays.

What are the symptoms of SLC27A4 Gene Ichthyosis Prematurity Syndrome?

The symptoms of SLC27A4 Gene Ichthyosis Prematurity Syndrome can vary depending on the severity of the condition. Some of the common symptoms include:

• Dry, scaly skin
• Respiratory distress
• Developmental delays
• Low birth weight
• Enlarged liver
• Jaundice
• Low muscle tone

How is SLC27A4 Gene Ichthyosis Prematurity Syndrome diagnosed?

SLC27A4 Gene Ichthyosis Prematurity Syndrome can be diagnosed through genetic testing. DNA Labs India offers NGS Genetic DNA testing for SLC27A4 Gene Ichthyosis Prematurity Syndrome which can detect mutations in the SLC27A4 gene. This test can be performed on a blood or saliva sample and can provide accurate results within a few weeks.

What is the cost of NGS Genetic DNA testing for SLC27A4 Gene Ichthyosis Prematurity Syndrome?

The cost of NGS Genetic DNA testing for SLC27A4 Gene Ichthyosis Prematurity Syndrome at DNA Labs India is INR 20000. This test is performed using advanced technology and can provide accurate results within a few weeks.

Conclusion

SLC27A4 Gene Ichthyosis Prematurity Syndrome is a rare genetic disorder that can cause a range of symptoms including dry, scaly skin, respiratory distress, and developmental delays. DNA Labs India offers NGS Genetic DNA testing for SLC27A4 Gene Ichthyosis Prematurity Syndrome at a cost of INR 20000 which can detect mutations in the SLC27A4 gene and provide accurate results within a few weeks.

If you suspect that you or someone you know may be affected by SLC27A4 Gene Ichthyosis Prematurity Syndrome, it is important to get tested as early diagnosis can lead to better outcomes.