Short Description

NGS genetic DNA test detecets for variant and mutation detection in ABCA12 gene for Ichthyosis congenital, Harlequin fetus type

PreTest Information

Clinical History of Patient who is going for ABCA12 Gene Ichthyosis congenital, Harlequin fetus type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ABCA12 Gene Ichthyosis congenital, Harlequin fetus type NGS Genetic DNA Test gene ABCA12

Detail Description

ABCA12 Gene Ichthyosis Congenital: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Ichthyosis congenital is a group of genetic skin disorders that result in dry, scaly, and thickened skin. One type of ichthyosis congenital is caused by mutations in the ABCA12 gene, which is responsible for producing a protein that helps to build the skin's outermost layer. When this gene is mutated, it can lead to a severe form of ichthyosis called Harlequin fetus.

Symptoms of Harlequin Fetus

The symptoms of Harlequin fetus are typically present at birth and can include:

• Thickened, scaly skin that is separated by deep cracks
• Red, swollen skin that may bleed
• Bulging eyes
• Everted lips and eyelids
• Abnormally shaped ears
• Limited mobility of the limbs due to thickened skin

Harlequin fetus is a rare and life-threatening condition that requires immediate medical attention.

Diagnosis of ABCA12 Gene Ichthyosis Congenital

Diagnosis of ABCA12 gene ichthyosis congenital is typically done through a physical examination of the skin and genetic testing. Genetic testing can confirm the presence of mutations in the ABCA12 gene, which is responsible for producing the protein that helps to build the skin's outermost layer.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for ABCA12 gene ichthyosis congenital can vary depending on the laboratory and the specific tests performed. At DNA Labs India, the cost of NGS genetic DNA testing for ABCA12 gene ichthyosis congenital is INR 20,000.

Conclusion

ABCA12 gene ichthyosis congenital is a rare and severe form of ichthyosis that can be diagnosed through a physical examination of the skin and genetic testing. NGS genetic DNA testing can confirm the presence of mutations in the ABCA12 gene, and the cost of this testing at DNA Labs India is INR 20,000. If you or a loved one is experiencing symptoms of Harlequin fetus, it is important to seek immediate medical attention.

For more information on ABCA12 gene ichthyosis congenital and NGS genetic DNA testing, please contact DNA Labs India.