Symptoms and Testing information for SH3TC2 Gene CMT4C Genetic Test

Symptoms and Testing information for SH3TC2 Gene CMT4C Genetic Test

In the realm of genetic diagnostics, DNA Labs UAE stands at the forefront, offering a comprehensive range of tests designed to unlock the mysteries of our genetic makeup. Among the myriad of tests available, the SH3TC2 Gene CMT4C Genetic Test is of paramount importance for individuals showing symptoms or having a family history of Charcot-Marie-Tooth disease type 4C (CMT4C). This particular test, priced at 4400 AED, is a critical tool in the diagnosis and management of this genetic condition.

Charcot-Marie-Tooth disease encompasses a group of disorders that affect the peripheral nerves, which are the nerves outside the brain and spinal cord. Specifically, CMT4C is a rare but severe subtype caused by mutations in the SH3TC2 gene. This gene plays a crucial role in the development and function of the peripheral nerves. Mutations in the SH3TC2 gene disrupt the structure and function of these nerves, leading to the symptoms associated with CMT4C.

Symptoms of CMT4C

Recognizing the symptoms of CMT4C is the first step towards a timely and accurate diagnosis. The symptoms can vary widely among individuals but generally include:

  • Motor Skill Difficulties: Affected individuals may experience weakness in the foot and lower leg muscles, which can lead to difficulties in walking, frequent tripping, and falls.
  • Sensory Loss: There may be a reduced ability to feel pain, touch, and temperature, particularly in the feet and hands.
  • Foot Deformities: High arches and curled toes (hammertoes) are common among those with CMT4C.
  • Decreased Reflexes: Reflexes such as the ankle or knee jerk can be diminished or absent.
  • Hand Muscle Atrophy and Weakness: In later stages, individuals may experience weakness and muscle loss in the hands, affecting grip strength and fine motor skills.

It is essential to note that symptoms of CMT4C can appear in early childhood or adolescence and progressively worsen over time. Early diagnosis through genetic testing is crucial for managing the condition effectively.

SH3TC2 Gene CMT4C Genetic Test at DNA Labs UAE

DNA Labs UAE offers the SH3TC2 Gene CMT4C Genetic Test for individuals showing symptoms of CMT4C or those with a family history of the condition. Priced at 4400 AED, the test provides a definitive diagnosis by identifying mutations in the SH3TC2 gene. The process involves a simple blood draw or saliva sample from the patient, which is then analyzed in our state-of-the-art laboratory.

Upon completion of the test, patients receive a comprehensive report detailing the findings. If a mutation in the SH3TC2 gene is identified, our genetic counselors are available to discuss the results, implications for the patient and their family, and potential management strategies. This personalized approach ensures that patients and their families are fully informed and supported throughout their diagnostic journey.

For more information about the SH3TC2 Gene CMT4C Genetic Test and to schedule an appointment, please visit our website.

At DNA Labs UAE, we are committed to providing accurate, timely, and compassionate genetic testing services. Our team of experts uses the latest technologies and follows stringent quality control measures to ensure the highest standards of diagnostic accuracy. Whether you are seeking a diagnosis for a genetic condition, understanding your genetic health risks, or exploring your genetic ancestry, DNA Labs UAE is here to guide you on your genetic journey.

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