Short Description

NGS genetic DNA test detecets for variant and mutation detection in SERHL2 gene for Serine hydrolase deficiency, SERHL2 related

PreTest Information

Clinical History of Patient who is going for SERHL2 Gene Serine hydrolase deficiency, SERHL2 related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Serine hydrolase deficiency, SERHL2 related

Detail Description

SERHL2 Gene Serine Hydrolase Deficiency

SERHL2 Gene Serine Hydrolase Deficiency is a rare genetic condition that affects the body's ability to break down certain proteins. This deficiency is caused by mutations in the SERHL2 gene, which provides instructions for making an enzyme called serine hydrolase. Serine hydrolase is involved in the breakdown of proteins in the body, and mutations in the SERHL2 gene can cause a deficiency of this enzyme.

Symptoms

Symptoms of SERHL2 Gene Serine Hydrolase Deficiency can vary from person to person. Some individuals may not experience any symptoms, while others may have severe symptoms. Some of the common symptoms include:

• Difficulty digesting protein-rich foods
• Abdominal pain and bloating
• Diarrhea
• Weight loss
• Developmental delays in infants and children

Diagnosis

Diagnosis of SERHL2 Gene Serine Hydrolase Deficiency can be done through genetic testing. This test looks for mutations in the SERHL2 gene and can confirm the diagnosis. Other tests, such as blood tests and imaging tests, may also be done to rule out other conditions.

NGS Genetic DNA Test

DNA Labs India offers an NGS Genetic DNA Test that can detect mutations in the SERHL2 gene. The cost of this test is INR 20,000. This test is non-invasive and requires only a small blood sample. The results of the test can help in the diagnosis and management of SERHL2 Gene Serine Hydrolase Deficiency.

If you suspect that you or your child may have SERHL2 Gene Serine Hydrolase Deficiency, it is important to speak with a healthcare professional. They can help with the diagnosis and provide guidance on management and treatment options.

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 SERHL2 Gene Serine hydrolase deficiency, SERHL2 related NGS Genetic DNA Test