Short Description

NGS genetic DNA test detecets for variant and mutation detection in CHRND gene for Multiple pterygium syndrome lethal type

PreTest Information

Clinical History of Patient who is going for CHRND Gene Multiple pterygium syndrome lethal type NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CHRND Gene Multiple pterygium syndrome lethal type NGS Genetic DNA Test gene CHRND

Detail Description

CHRND Gene Multiple Pterygium Syndrome Lethal Type NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Multiple pterygium syndrome lethal type (MPS) is a rare genetic disorder characterized by multiple joint contractures, pterygia, and severe respiratory distress, which usually leads to death in the neonatal period. It is caused by mutations in the CHRND gene, which encodes the delta subunit of the acetylcholine receptor at the neuromuscular junction.

NGS (Next Generation Sequencing) Genetic DNA Test is a powerful tool for the diagnosis of genetic disorders like MPS. It is a high-throughput sequencing technology that can sequence millions of DNA fragments in parallel, enabling the detection of mutations in multiple genes simultaneously.

Symptoms of MPS

The symptoms of MPS include:

• Multiple joint contractures
• Pterygia (webbing of the skin)
• Severe respiratory distress
• Low birth weight
• Abnormal facial features
• Feeding difficulties

Diagnosis of MPS

The diagnosis of MPS is based on the clinical features and confirmed by genetic testing. NGS Genetic DNA Test is the most accurate method of diagnosing MPS. It can detect mutations in the CHRND gene with high sensitivity and specificity.

Cost of NGS Genetic DNA Test for MPS

The cost of NGS Genetic DNA Test for MPS in India is INR 20,000. It is an affordable and reliable test that can provide accurate diagnosis and help in the management of the disease.

Conclusion

MPS is a rare genetic disorder that can be diagnosed accurately with NGS Genetic DNA Test. The cost of the test is affordable in India, and it can provide valuable information for the management of the disease. DNA Labs India is a leading provider of genetic testing services in India and offers NGS Genetic DNA Test for MPS at an affordable cost. If you suspect that you or your child may have MPS, consult a genetic counselor and get tested for the disease.