Short Description

NGS genetic DNA test detecets for variant and mutation detection in PLEKHG5 gene for Spinal muscular atrophy distal, autosomal recessive type 4

PreTest Information

Clinical History of Patient who is going for PLEKHG5 Gene Spinal muscular atrophy distal, autosomal recessive type 4 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PLEKHG5 Gene Spinal muscular atrophy distal, autosomal recessive type 4

Detail Description

PLEKHG5 Gene Spinal Muscular Atrophy Distal, Autosomal Recessive Type 4 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Spinal muscular atrophy (SMA) is a genetic disorder that affects the muscles used for movement (skeletal muscles). It is caused by a loss of specialized nerve cells, called motor neurons, that control these muscles. There are several types of SMA, and one of them is distal SMA, which is also known as SMA type 4.

Distal SMA is a rare subtype of SMA that affects the muscles in the hands and feet first and gradually spreads to other parts of the body. It is an autosomal recessive disorder, which means that a person must inherit a copy of the mutated gene from both parents to develop the condition. The PLEKHG5 gene is one of the genes associated with distal SMA type 4.

PLEKHG5 Gene Spinal Muscular Atrophy Distal, Autosomal Recessive Type 4 NGS Genetic DNA Test Cost

DNA Labs India offers a PLEKHG5 gene spinal muscular atrophy distal, autosomal recessive type 4 NGS genetic DNA test at a cost of INR:20000. This test uses next-generation sequencing (NGS) technology to analyze the DNA sample and identify any mutations in the PLEKHG5 gene that may be associated with distal SMA type 4.

Symptoms of Distal SMA Type 4

The symptoms of distal SMA type 4 usually develop in adulthood, typically in the third or fourth decade of life. The initial symptoms are often mild and may include weakness or cramping in the hands or feet, difficulty with fine motor tasks, and a weakened grip. As the condition progresses, the weakness may spread to other parts of the body, such as the arms and legs, and may affect the muscles used for breathing and swallowing.

Diagnosis of Distal SMA Type 4

Diagnosing distal SMA type 4 can be challenging because the symptoms are often mild and may be mistaken for other conditions. A genetic test, such as the PLEKHG5 gene spinal muscular atrophy distal, autosomal recessive type 4 NGS genetic DNA test offered by DNA Labs India, can confirm the diagnosis. Other tests, such as electromyography (EMG) and nerve conduction studies, may also be used to evaluate muscle and nerve function.

Conclusion

If you or a loved one is experiencing symptoms of distal SMA type 4, it is important to seek medical attention. DNA Labs India offers a PLEKHG5 gene spinal muscular atrophy distal, autosomal recessive type 4 NGS genetic DNA test at a cost of INR:20000, which can help confirm the diagnosis and provide valuable information for treatment and management of the condition.

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 PLEKHG5 Gene Spinal muscular atrophy distal, autosomal recessive type 4 NGS Genetic DNA Test