Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC16A1 gene for Monocarboxylate transporter 1 deficiency

PreTest Information

Clinical History of Patient who is going for SLC16A1 Gene Monocarboxylate transporter 1 deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Monocarboxylate transporter 1 deficiency

Detail Description

SLC16A1 Gene Monocarboxylate Transporter 1 Deficiency: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

SLC16A1 gene monocarboxylate transporter 1 deficiency is a rare genetic disorder that affects the transport of lactate and pyruvate in the body. Lactate and pyruvate are important molecules that play a crucial role in energy production in our cells. SLC16A1 gene is responsible for coding the protein that facilitates the transport of lactate and pyruvate across the cell membrane. When this gene is mutated or altered, it results in the deficiency of monocarboxylate transporter 1, which can cause a range of symptoms and health complications.

Symptoms of SLC16A1 Gene Monocarboxylate Transporter 1 Deficiency

The symptoms of SLC16A1 gene monocarboxylate transporter 1 deficiency can vary widely from person to person. Some people may experience mild symptoms, while others may have severe symptoms. Some of the common symptoms of this genetic disorder include:

• Delayed developmental milestones
• Weakness and fatigue
• Muscle pain and cramps
• Abnormal muscle movements
• Seizures
• Intellectual disability
• Autism spectrum disorder
• Speech and language disorders
• Behavioral problems
• Increased lactate levels in blood and urine

It is important to note that not all people with SLC16A1 gene monocarboxylate transporter 1 deficiency will experience all of these symptoms. Some people may only have one or two symptoms, while others may have a combination of several symptoms.

Diagnosis of SLC16A1 Gene Monocarboxylate Transporter 1 Deficiency

SLC16A1 gene monocarboxylate transporter 1 deficiency can be diagnosed through genetic testing. A DNA sample is taken from the patient, and the SLC16A1 gene is sequenced to look for any mutations or alterations. This test is called NGS genetic DNA test. If a mutation is found, it confirms the diagnosis of SLC16A1 gene monocarboxylate transporter 1 deficiency.

It is important to note that genetic testing is not always covered by insurance, and the cost of the test can vary depending on the laboratory and location. In India, the cost of NGS genetic DNA test for SLC16A1 gene monocarboxylate transporter 1 deficiency is approximately INR 20,000.

Conclusion

SLC16A1 gene monocarboxylate transporter 1 deficiency is a rare genetic disorder that can cause a range of symptoms and health complications. It is important to seek medical attention if you or your child are experiencing any of the symptoms listed above. A genetic test can confirm the diagnosis of SLC16A1 gene monocarboxylate transporter 1 deficiency, and can help guide treatment and management of the condition. While the cost of genetic testing can be a barrier for some people, it is important to consider the potential benefits of early diagnosis and intervention.

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 SLC16A1 Gene Monocarboxylate transporter 1 deficiency NGS Genetic DNA Test