Short Description

List of genes tested using NGS technology for detection of variant and mutation in Lysosomal Storage Disorders Enzyme Panel are Acid lipase (Wolman, LIPA), Acidic alpha-glucosidase (Pompe, GAA), Acidic sphingomyelinase (Niemann-Pick Type A and Type B, SMPD1), Alpha-fucosidase (Alpha-fucosidase deficiency, FUCA1), Alpha-galactosidase (Fabry, GLA), Alpha-L-iduronidase (MPS I, IDUA), Alpha-mannosidase (Alpha-mannosidase deficiency, MAN2B1), Alpha-N-acetylgalactosaminidase (Schindler/Kanzaki, NAGA), Arylsulfatase B (MPS VI, ARSB), Beta-galactosidase (MPS IVB, GLB1), Beta-glucocerebrosidase and Chitotriosidase (Gaucher, GBA), Beta-glucuronidase (MPS VII, GUSB), Beta-hexosaminidase (Tay-Sachs, HEXA), Beta-mannosidase (Beta-mannosidase deficiency, MANBA), Hexosaminidase AB (Sandhoff, HEXA/HEXB), Iduronate-2-sulfatase (MPS II, IDS), N-acetyl-alpha-glucosaminidase (MPS IIIB, NAGLU), N-acetylgalatosamine-6-sulfate-sulfatase (MPS IVA, GALNS), Palmitoyl-protein thioesterase (Neuronal ceroid lipofuscinosis type 1, NCL1, Infantile NCL, Santavuori-Haltia disease, PPT1), Tripeptidyl peptidase (Neuronal ceroid lipofuscinosis type2, NCL2, Late infantile NCL, Jansky-Bielschowsky disease, TPP1)

PreTest Information

Clinical History of Patient who is going for Lysosomal Storage Disorders Enzyme Panel NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Lysosomal Storage Disorders Enzyme Panel

Detail Description

Lysosomal Storage Disorders Enzyme Panel NGS Genetic DNA Test

Lysosomal storage disorders (LSDs) are a group of inherited metabolic disorders that are caused by deficiencies in enzymes that are responsible for breaking down and recycling substances within cells. LSDs are rare, but they can cause serious health problems if left untreated. The Lysosomal Storage Disorders Enzyme Panel NGS Genetic DNA Test is a diagnostic tool that can help identify these disorders.

Symptoms of LSDs

The symptoms of LSDs can vary depending on the type of disorder and the severity of the deficiency. Some common symptoms include:

• Developmental delays
• Seizures
• Enlarged liver and spleen
• Bone pain and deformities
• Neurological problems

LSDs can also cause vision and hearing loss, respiratory problems, and cardiovascular issues.

Diagnosis

Diagnosing LSDs can be difficult because the symptoms can be similar to other conditions. The Lysosomal Storage Disorders Enzyme Panel NGS Genetic DNA Test is a comprehensive diagnostic tool that can help identify the specific enzyme deficiency that is causing the disorder. The test uses next-generation sequencing (NGS) technology to analyze the patient's DNA and identify any mutations or abnormalities that may be causing the deficiency.

Cost of the Test

The cost of the Lysosomal Storage Disorders Enzyme Panel NGS Genetic DNA Test in India is approximately INR 20,000. The cost may vary depending on the specific laboratory or healthcare provider that is administering the test.

Conclusion

The Lysosomal Storage Disorders Enzyme Panel NGS Genetic DNA Test is an important diagnostic tool for identifying LSDs. Early diagnosis and treatment can help prevent serious health problems and improve the quality of life for patients with these disorders. If you or a loved one is experiencing symptoms of an LSD, talk to your healthcare provider about the Lysosomal Storage Disorders Enzyme Panel NGS Genetic DNA Test.

For more information on DNA testing and genetic disorders, contact DNA Labs India.