Short Description

NGS genetic DNA test detecets for variant and mutation detection in PTDSS1 gene for Lenz-Majewski hyperostotic dwarfism

PreTest Information

Clinical History of Patient who is going for PTDSS1 Gene Lenz-Majewski hyperostotic dwarfism NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PTDSS1 Gene Lenz-Majewski hyperostotic dwarfism NGS Genetic DNA Test gene PTDSS1

Detail Description

PTDSS1 Gene Lenz-Majewski Hyperostotic Dwarfism NGS Genetic DNA Test

Lenz-Majewski hyperostotic dwarfism (LMHD) is a rare genetic disorder characterized by multiple skeletal abnormalities, intellectual disability, and distinct facial features. It is caused by mutations in the PTDSS1 gene, which provides instructions for making an enzyme called phosphatidylserine synthase 1.

Phosphatidylserine synthase 1 is involved in the production of phosphatidylserine, a molecule that plays a crucial role in the formation and maintenance of cell membranes. Mutations in the PTDSS1 gene disrupt the normal functioning of this enzyme, leading to abnormal bone growth and other features of LMHD.

Symptoms of Lenz-Majewski Hyperostotic Dwarfism

The symptoms of Lenz-Majewski hyperostotic dwarfism can vary widely in severity and presentation. Some of the most common symptoms include:

• Short stature
• Abnormal bone growth and thickening
• Distinct facial features, such as a small head, prominent forehead, and wide nasal bridge
• Intellectual disability
• Delayed speech development
• Abnormal dentition
• Recurrent infections
• Abnormalities of the skin, hair, and nails

Diagnosis of Lenz-Majewski Hyperostotic Dwarfism

Diagnosis of Lenz-Majewski hyperostotic dwarfism can be challenging due to its rarity and variable presentation. However, a combination of clinical evaluation and genetic testing can help confirm the diagnosis. Genetic testing for mutations in the PTDSS1 gene can be performed using next-generation sequencing (NGS) technology.

PTDSS1 Gene NGS Genetic DNA Test Cost

The cost of the PTDSS1 gene NGS genetic DNA test for Lenz-Majewski hyperostotic dwarfism in India is approximately INR 20,000. This cost may vary depending on the testing facility and other factors.

Conclusion

Lenz-Majewski hyperostotic dwarfism is a rare genetic disorder that can cause a range of skeletal abnormalities, intellectual disability, and distinct facial features. Genetic testing using NGS technology can help confirm the diagnosis of LMHD by identifying mutations in the PTDSS1 gene. If you or a loved one is experiencing symptoms of LMHD, it is important to speak with a healthcare professional to determine the best course of action.