Short Description

NGS genetic DNA test detecets for variant and mutation detection in LAMB3 gene for Epidermolysis bullosa, junctional, Herlitz type

PreTest Information

Clinical History of Patient who is going for LAMB3 Gene Epidermolysis bullosa, junctional, Herlitz type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with LAMB3 Gene Epidermolysis bullosa, junctional, Herlitz type NGS Genetic DNA Test gene LAMB3

Detail Description

LAMB3 Gene Epidermolysis Bullosa, Junctional, Herlitz Type NGS Genetic DNA Test Cost INR 20000: Symptoms and Diagnosis

Epidermolysis bullosa (EB) is a rare genetic disorder that affects the skin, nails, and mucous membranes. It is caused by mutations in the genes that encode for proteins that are responsible for the attachment of the skin layers. One such gene is the LAMB3 gene, which encodes for the laminin-5 protein. Mutations in the LAMB3 gene cause junctional epidermolysis bullosa (JEB) and Herlitz JEB, which are severe forms of EB.

Symptoms of LAMB3 Gene Epidermolysis Bullosa

The symptoms of JEB and Herlitz JEB are similar and include:

• Blisters and sores on the skin, which can be painful and prone to infection
• Blisters in the mouth, throat, and gastrointestinal tract, which can cause difficulty in eating and swallowing
• Scarring and deformity of the skin and nails
• Abnormal growth of the hair and teeth
• Vision and hearing problems
• Joint deformities and limited mobility

Diagnosis of LAMB3 Gene Epidermolysis Bullosa

Diagnosis of LAMB3 gene EB involves a combination of clinical examination, family history, and genetic testing. A dermatologist or a geneticist can diagnose EB based on the symptoms and physical examination. Genetic testing is used to confirm the diagnosis and identify the specific mutation in the LAMB3 gene.

NGS Genetic DNA Test for LAMB3 Gene Epidermolysis Bullosa

Next-generation sequencing (NGS) is a genetic testing technique that can analyze multiple genes simultaneously. NGS testing for LAMB3 gene EB can identify the specific mutation in the LAMB3 gene and confirm the diagnosis of JEB or Herlitz JEB. The NGS test for LAMB3 gene EB costs INR 20,000 in DNA Labs India.

Conclusion

LAMB3 gene EB is a severe form of EB that can cause significant physical and emotional distress to the affected individuals and their families. Early diagnosis and genetic testing can help in the management and treatment of the condition. DNA Labs India offers NGS genetic testing for LAMB3 gene EB at an affordable cost of INR 20,000.

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 LAMB3 Gene Epidermolysis bullosa, junctional, Herlitz type NGS Genetic DNA Test