Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC25A15 gene for Hyperornithinemia- Hyperammonemia - Homocitrullinuria syndrome

PreTest Information

Clinical History of Patient who is going for SLC25A15 Gene Hyperornithinemia- Hyperammonemia - Homocitrullinuria syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Hyperornithinemia- Hyperammonemia - Homocitrullinuria syndrome

Detail Description

SLC25A15 Gene Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

SLC25A15 Gene Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome (HHH syndrome) is a rare genetic disorder that affects the metabolism of amino acids. This disorder is caused by mutations in the SLC25A15 gene, which provides instructions for making a protein called the mitochondrial ornithine transporter 1 (ORNT1). ORNT1 plays a crucial role in the urea cycle, which is responsible for removing ammonia from the body.

HHH syndrome is characterized by three main symptoms: hyperornithinemia (elevated levels of ornithine in the blood), hyperammonemia (elevated levels of ammonia in the blood), and homocitrullinuria (elevated levels of homocitrulline in the urine). These symptoms can lead to neurological problems, such as seizures, intellectual disability, and developmental delay.

If you suspect that you or your child may have HHH syndrome, it is important to get a proper diagnosis. The diagnosis is typically made through a combination of clinical evaluation, biochemical testing, and genetic testing.

At DNA Labs India, we offer a Next-Generation Sequencing (NGS) Genetic DNA Test for HHH syndrome. This test analyzes the SLC25A15 gene to identify mutations that may be causing the disorder. The cost of this test is INR 20000.

The symptoms of HHH syndrome can vary from person to person, but some common signs include:

• Seizures
• Intellectual disability
• Developmental delay
• Behavioral problems
• Liver problems
• Hyperactivity

If you or your child is experiencing any of these symptoms, it is important to consult with a healthcare professional. Your doctor may recommend biochemical testing to measure the levels of ornithine, ammonia, and homocitrulline in the blood and urine.

If biochemical testing indicates that HHH syndrome is a possibility, genetic testing can help confirm the diagnosis. At DNA Labs India, we use NGS technology to analyze the SLC25A15 gene and identify mutations that may be causing the disorder.

Overall, HHH syndrome is a rare genetic disorder that can have serious neurological consequences. If you suspect that you or your child may have HHH syndrome, it is important to seek a proper diagnosis through a combination of clinical evaluation, biochemical testing, and genetic testing. At DNA Labs India, we offer a NGS Genetic DNA Test for HHH syndrome at a cost of INR 20000.

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 SLC25A15 Gene Hyperornithinemia- Hyperammonemia - Homocitrullinuria syndrome NGS Genetic DNA Test