Short Description

NGS genetic DNA test detecets for variant and mutation detection in SMAD3 gene for Loeys-Dietz syndrome type 1C

PreTest Information

Clinical History of Patient who is going for SMAD3 Gene Loeys-Dietz syndrome type 1C NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SMAD3 Gene Loeys-Dietz syndrome type 1C NGS Genetic DNA Test gene SMAD3

Detail Description

SMAD3 Gene Loeys-Dietz Syndrome Type 1C NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Loeys-Dietz syndrome (LDS) is a rare genetic disorder that affects the connective tissues of the body. LDS is caused by mutations in genes that control the production of proteins that form the connective tissues. The SMAD3 gene is one such gene that is associated with Loeys-Dietz syndrome type 1C.

Symptoms of Loeys-Dietz Syndrome

Loeys-Dietz syndrome affects different parts of the body, including the cardiovascular system, eyes, and skeleton. Some of the common symptoms of Loeys-Dietz syndrome include:

• Arterial aneurysms and dissections
• Cleft palate and/or bifid uvula
• Craniosynostosis (premature fusion of the skull bones)
• Dental abnormalities
• Easy bruising and/or scarring
• Joint hypermobility
• Low-set ears
• Soft, velvety skin
• Torticollis (twisted neck)
• Translucent skin

Diagnosis of Loeys-Dietz Syndrome

Loeys-Dietz syndrome can be diagnosed through genetic testing. The SMAD3 gene is one of the genes that can be tested for mutations associated with Loeys-Dietz syndrome type 1C. Next-generation sequencing (NGS) is a common genetic testing method used to detect mutations in the SMAD3 gene.

NGS is a high-throughput DNA sequencing technology that can sequence millions of DNA fragments simultaneously. This technology enables the detection of small mutations in the SMAD3 gene that may cause Loeys-Dietz syndrome type 1C. NGS testing for SMAD3 gene mutations is available at DNA Labs India.

Cost of SMAD3 Gene Loeys-Dietz Syndrome Type 1C NGS Genetic DNA Test

The cost of the SMAD3 gene Loeys-Dietz syndrome type 1C NGS genetic DNA test at DNA Labs India is INR 20,000. This cost includes the genetic test and the genetic counseling session with a genetic counselor.

Conclusion

Loeys-Dietz syndrome is a rare genetic disorder that can be caused by mutations in the SMAD3 gene. NGS genetic testing for SMAD3 gene mutations is available at DNA Labs India. The cost of the SMAD3 gene Loeys-Dietz syndrome type 1C NGS genetic DNA test at DNA Labs India is INR 20,000. If you or someone you know has symptoms of Loeys-Dietz syndrome, it is important to consult a genetic counselor and undergo genetic testing to confirm the diagnosis.

Contact DNA Labs India today to schedule your SMAD3 gene Loeys-Dietz syndrome type 1C NGS genetic DNA test and genetic counseling session.

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 SMAD3 Gene Loeys-Dietz syndrome type 1C NGS Genetic DNA Test