Short Description

NGS genetic DNA test detecets for variant and mutation detection in POLD1 gene for Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome

PreTest Information

Clinical History of Patient who is going for POLD1 Gene Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with POLD1 Gene Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome NGS Genetic DNA Test gene POLD1

Detail Description

POLD1 Gene Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome NGS Genetic DNA Test

Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is a rare genetic disorder that affects multiple organs and tissues. It is caused by mutations in the POLD1 gene, which provides instructions for making a protein that is involved in DNA replication and repair. This syndrome is inherited in an autosomal dominant manner, which means that a person only needs to inherit one copy of the mutated gene to develop the disorder.

Symptoms of MDPL

The symptoms of MDPL can vary widely, even among affected individuals within the same family. Some common features of MDPL include:

• Mandibular hypoplasia (underdeveloped jawbone)
• Deafness or hearing loss
• Progeroid features (premature aging)
• Lipodystrophy (loss of body fat in some areas and excess fat accumulation in others)
• Short stature
• Delayed puberty
• Insulin resistance and diabetes
• High blood pressure
• Abnormal lipid levels
• Enlarged liver and spleen

Diagnosis of MDPL

Diagnosing MDPL can be challenging because of its rarity and variable presentation. A thorough physical examination and medical history can provide clues to the diagnosis, but genetic testing is necessary to confirm it. Next-generation sequencing (NGS) technology can be used to sequence the entire POLD1 gene and identify any mutations that may be causing the disorder.

Cost of MDPL NGS Genetic DNA Test

The cost of the MDPL NGS genetic DNA test in India is approximately INR 20,000. This test can be ordered by a physician or genetic counselor, and the results can provide important information for both diagnosis and management of the disorder.

Conclusion

MDPL is a rare genetic disorder that can have a wide range of symptoms and presentations. Early diagnosis through genetic testing can help affected individuals and their families make informed decisions about medical management and future reproductive planning. The MDPL NGS genetic DNA test is a valuable tool for diagnosing this disorder and is available at DNA Labs India.

Contact DNA Labs India to learn more about the MDPL NGS genetic DNA test and other genetic testing options.

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 POLD1 Gene Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome NGS Genetic DNA Test