Test Name	NFU1 Gene Multiple mitochondrial dysfunctions syndrome type 1 NGS Genetic DNA Test
Test type	Neurologist
Pre-test Information	Clinical History of Patient who is going for NFU1 Gene Multiple mitochondrial dysfunctions syndrome type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with NFU1 Gene Multiple mitochondrial dysfunctions syndrome type 1
Report Delivery	3 to 4 Weeks
Components
Price	₹ 20000
Method	NGS Technology

Short Description

NGS genetic DNA test detecets for variant and mutation detection in NFU1 gene for Multiple mitochondrial dysfunctions syndrome type 1

PreTest Information

Clinical History of Patient who is going for NFU1 Gene Multiple mitochondrial dysfunctions syndrome type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with NFU1 Gene Multiple mitochondrial dysfunctions syndrome type 1

Detail Description

NFU1 Gene Multiple Mitochondrial Dysfunctions Syndrome Type 1 NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Introduction

Mitochondrial diseases are a group of genetic disorders that affect the energy-producing organelles in the body's cells. These disorders can cause a wide range of symptoms, including muscle weakness, fatigue, vision problems, and developmental delays. One such mitochondrial disease is the NFU1 Gene Multiple Mitochondrial Dysfunctions Syndrome Type 1 (MMDS1). This disorder is caused by mutations in the NFU1 gene, which is responsible for producing a protein that is essential for the proper functioning of mitochondria. In this blog, we will discuss the symptoms, diagnosis, and cost of the NFU1 Gene MMDS1 NGS Genetic DNA test.

Symptoms of NFU1 Gene MMDS1

The symptoms of NFU1 Gene MMDS1 can vary from person to person, but they typically develop during infancy or early childhood. Some of the most common symptoms of this disorder include:

• Developmental delays
• Weak muscle tone (hypotonia)
• Muscle weakness and wasting
• Problems with movement and coordination
• Vision problems
• Seizures
• Respiratory problems
• Heart abnormalities

Diagnosis of NFU1 Gene MMDS1

Diagnosing NFU1 Gene MMDS1 can be challenging, as the symptoms of this disorder can be similar to those of other mitochondrial diseases. However, there are several tests that can help diagnose this condition, including:

• Physical examination
• Medical history review
• Blood tests to check for elevated lactate and pyruvate levels
• Genetic testing to look for mutations in the NFU1 gene
• Muscle biopsy to examine the mitochondria in muscle cells

NGS Genetic DNA Test for NFU1 Gene MMDS1

Next-generation sequencing (NGS) is a type of genetic testing that can be used to diagnose NFU1 Gene MMDS1. This test involves analyzing a person's DNA to look for mutations in the NFU1 gene. The NGS test is highly accurate and can detect even small genetic changes that may be missed by other types of genetic testing. The cost of the NFU1 Gene MMDS1 NGS Genetic DNA test in India is typically around INR 20,000. This cost may vary depending on the testing facility and any additional testing that may be required.

Conclusion

NFU1 Gene MMDS1 is a rare mitochondrial disease that can cause a wide range of symptoms. If you or your child are experiencing symptoms of this disorder, it is important to speak with a healthcare provider. A diagnosis can be made through a combination of physical examination, medical history review, blood tests, and genetic testing, including the NGS Genetic DNA test. While the cost of this test may be high, it can provide important information that can help with diagnosis and treatment.

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 NFU1 Gene Multiple mitochondrial dysfunctions syndrome type 1 NGS Genetic DNA Test