Short Description

NGS genetic DNA test detecets for variant and mutation detection in MRPL44 gene for Combined oxidative phosphorylation deficiency type 16

PreTest Information

Clinical History of Patient who is going for MRPL44 Gene Combined oxidative phosphorylation deficiency type 16 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 16

Detail Description

MRPL44 Gene Combined Oxidative Phosphorylation Deficiency Type 16 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

DNA Labs India is a leading provider of genetic testing services in India. We offer a wide range of genetic tests, including the MRPL44 Gene Combined Oxidative Phosphorylation Deficiency Type 16 NGS Genetic DNA Test. This test is designed to detect mutations in the MRPL44 gene that can lead to a rare mitochondrial disorder known as Combined Oxidative Phosphorylation Deficiency Type 16 (COXPD16).

What is MRPL44 Gene Combined Oxidative Phosphorylation Deficiency Type 16?

COXPD16 is a rare genetic disorder that affects the mitochondria, which are the energy-producing structures in cells. This disorder is caused by mutations in the MRPL44 gene, which provides instructions for making a protein that is essential for the normal functioning of the mitochondria. When this protein is not produced correctly, the mitochondria cannot generate enough energy for the body's needs, leading to a range of symptoms.

What are the symptoms of COXPD16?

The symptoms of COXPD16 can vary widely, even among individuals with the same genetic mutation. Some of the most common symptoms include:

• Developmental delays
• Weak muscle tone (hypotonia)
• Difficulty with movement and coordination (ataxia)
• Seizures
• Visual impairments
• Intellectual disability
• Respiratory problems
• Heart abnormalities

How is COXPD16 diagnosed?

COXPD16 is typically diagnosed through a combination of clinical evaluation and genetic testing. A doctor may suspect the disorder based on a patient's symptoms and medical history, and can confirm the diagnosis with a genetic test. The MRPL44 Gene Combined Oxidative Phosphorylation Deficiency Type 16 NGS Genetic DNA Test is a reliable and accurate way to detect mutations in the MRPL44 gene.

What is the cost of the MRPL44 Gene Combined Oxidative Phosphorylation Deficiency Type 16 NGS Genetic DNA Test?

The cost of the MRPL44 Gene Combined Oxidative Phosphorylation Deficiency Type 16 NGS Genetic DNA Test is INR 20,000. This includes the cost of the test itself, as well as genetic counseling and interpretation of results by our team of expert geneticists. We believe that genetic testing should be accessible and affordable for everyone, which is why we offer competitive pricing for all of our services.

Why choose DNA Labs India for genetic testing?

At DNA Labs India, we are committed to providing the highest quality genetic testing services to our clients. We use state-of-the-art technology and equipment to ensure accurate and reliable results, and our team of geneticists is among the most experienced and knowledgeable in the field. We also offer personalized genetic counseling to help our clients understand their test results and make informed decisions about their health.

If you suspect that you or a loved one may have COXPD16, or if you have a family history of the disorder, contact DNA Labs India today to learn more about our MRPL44 Gene Combined Oxidative Phosphorylation Deficiency Type 16 NGS Genetic DNA Test. Our team is here to help you get the answers and support you need.

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 MRPL44 Gene Combined oxidative phosphorylation deficiency type 16 NGS Genetic DNA Test