Short Description

NGS genetic DNA test detecets for variant and mutation detection in LAMA3 gene for Epidermolysis bullosa, junctional, Herlitz type

PreTest Information

Clinical History of Patient who is going for LAMA3 Gene Epidermolysis bullosa, junctional, Herlitz type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with LAMA3 Gene Epidermolysis bullosa, junctional, Herlitz type NGS Genetic DNA Test gene LAMA3

Detail Description

LAMA3 Gene Epidermolysis Bullosa, Junctional, Herlitz Type NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Epidermolysis bullosa is a group of genetic disorders that cause the skin to become fragile and easily blistered. One such type of epidermolysis bullosa is junctional epidermolysis bullosa, Herlitz type. This condition is caused by mutations in the LAMA3 gene. DNA Labs India offers NGS genetic DNA testing for the LAMA3 gene to help diagnose this condition.

Symptoms of Junctional Epidermolysis Bullosa, Herlitz Type

The symptoms of junctional epidermolysis bullosa, Herlitz type include:

• Blisters and sores on the skin, including the scalp, face, and limbs
• Difficulty swallowing and breathing due to blistering in the mouth and throat
• Thickened skin on the palms and soles of the feet
• Delayed growth and development
• Eye problems, including corneal erosions and scarring

Diagnosing Junctional Epidermolysis Bullosa, Herlitz Type

To diagnose junctional epidermolysis bullosa, Herlitz type, a skin biopsy may be performed. This involves taking a small sample of skin tissue to examine under a microscope. Genetic testing may also be done to identify mutations in the LAMA3 gene.

NGS Genetic DNA Testing for LAMA3 Gene

DNA Labs India offers NGS genetic DNA testing for the LAMA3 gene. This test can identify mutations in the gene that are associated with junctional epidermolysis bullosa, Herlitz type. The test is performed on a blood or saliva sample and costs INR 20000.

Benefits of NGS Genetic DNA Testing

NGS genetic DNA testing offers several benefits for the diagnosis of junctional epidermolysis bullosa, Herlitz type:

• Accurate diagnosis of the condition
• Identification of mutations that may be missed with other testing methods
• Ability to test family members for the same mutation
• Possibility of early diagnosis and treatment

Conclusion

Junctional epidermolysis bullosa, Herlitz type is a rare genetic condition that can cause significant skin and other health problems. DNA Labs India offers NGS genetic DNA testing for the LAMA3 gene to help diagnose this condition. With accurate diagnosis, patients can receive appropriate treatment and 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 LAMA3 Gene Epidermolysis bullosa, junctional, Herlitz type NGS Genetic DNA Test