Short Description

NGS genetic DNA test detecets for variant and mutation detection in ALDH18A1 gene for Cutis laxa type 3A, autosomal recessive

PreTest Information

Clinical History of Patient who is going for ALDH18A1 Gene Cutis laxa type 3A, autosomal recessive NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ALDH18A1 Gene Cutis laxa type 3A, autosomal recessive NGS Genetic DNA Test gene ALDH18A1

Detail Description

ALDH18A1 Gene Cutis Laxa Type 3A - Symptoms, Diagnosis and NGS Genetic DNA Test Cost

ALDH18A1 Gene Cutis Laxa Type 3A is a rare autosomal recessive genetic disorder that affects the connective tissues in the body, leading to loose and sagging skin. It is caused by mutations in the ALDH18A1 gene, which provides instructions for making an enzyme called delta-1-pyrroline-5-carboxylate synthase. This enzyme is involved in the production of a molecule called proline, which is essential for the formation of collagen and elastin in the skin and other connective tissues.

Symptoms of ALDH18A1 Gene Cutis Laxa Type 3A

The symptoms of ALDH18A1 Gene Cutis Laxa Type 3A can vary widely, even among individuals with the same genetic mutation. However, some common symptoms include:

• Loose, sagging skin
• Poor wound healing
• Joint laxity
• Developmental delay
• Intellectual disability
• Seizures

Diagnosis of ALDH18A1 Gene Cutis Laxa Type 3A

ALDH18A1 Gene Cutis Laxa Type 3A can be diagnosed through genetic testing, which can identify mutations in the ALDH18A1 gene. Other diagnostic tests may include skin biopsies, echocardiograms, and imaging studies to evaluate the structure and function of the heart and other organs.

NGS Genetic DNA Test Cost for ALDH18A1 Gene Cutis Laxa Type 3A

The cost of NGS genetic DNA testing for ALDH18A1 Gene Cutis Laxa Type 3A varies depending on the laboratory and the specific tests performed. At DNA Labs India, we offer a comprehensive range of genetic testing services, including NGS sequencing, at a cost of INR 20,000.

If you suspect that you or a loved one may have ALDH18A1 Gene Cutis Laxa Type 3A, contact DNA Labs India today to schedule a consultation with one of our genetic counselors. We can provide information on genetic testing options and help you make informed decisions about your healthcare.

Cutis laxa type 3A, autosomal recessive (ARCL3A), is a rare genetic disorder characterized by loose and wrinkled skin that may be present from birth or become more noticeable as a person ages. It is caused by mutations in the ALDH18A1 gene, which provides instructions for making an enzyme called delta-1-pyrroline-5-carboxylate synthase (P5CS). This enzyme plays a role in the synthesis of proline, an amino acid that is important for collagen formation and other processes in the body.