SPTLC2 Gene Neuropathy, also known as hereditary sensory and autonomic type 1C, is a rare genetic disorder that affects the nervous system. It is caused by mutations in the SPTLC2 gene, which provides instructions for making an enzyme called serine palmitoyltransferase long chain base subunit 2. This enzyme is involved in the production of sphingolipids, which are essential components of cell membranes.

Symptoms of SPTLC2 Gene Neuropathy

The symptoms of SPTLC2 Gene Neuropathy can vary widely from person to person, even within the same family. Some common symptoms include:

• Loss of sensation in the hands and feet
• Burning or tingling sensations
• Weakness and muscle wasting
• Difficulty walking
• Bladder and bowel problems
• Autonomic dysfunction
• Decreased sweating

Diagnosis of SPTLC2 Gene Neuropathy

Diagnosis of SPTLC2 Gene Neuropathy is typically based on a combination of clinical symptoms, family history and genetic testing. A neurological examination is usually performed to assess the extent of nerve damage, while genetic testing can confirm the presence of mutations in the SPTLC2 gene.

NGS Genetic DNA Test Cost at DNA Labs India

NGS Genetic DNA Test for SPTLC2 Gene Neuropathy is available at DNA Labs India for INR 20,000. The test uses next-generation sequencing (NGS) technology to analyze multiple genes associated with hereditary sensory and autonomic neuropathies, including SPTLC2. The results of the test can help confirm a diagnosis of SPTLC2 Gene Neuropathy and provide important information for genetic counseling and family planning.