Short Description

NGS genetic DNA test detecets for variant and mutation detection in SMC3 gene for Cornelia de Lange syndrome type 3

PreTest Information

Clinical History of Patient who is going for SMC3 Gene Cornelia de Lange syndrome type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SMC3 Gene Cornelia de Lange syndrome type 3 NGS Genetic DNA Test gene SMC3

Detail Description

SMC3 Gene and Cornelia de Lange Syndrome Type 3: NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that affects various systems in the body. It is caused by mutations in genes that play a role in the development and maintenance of the body. One such gene is the SMC3 gene, which is responsible for CdLS type 3. In this blog, we will discuss the SMC3 gene, CdLS type 3, NGS genetic DNA test cost, symptoms, and diagnosis.

SMC3 Gene and Cornelia de Lange Syndrome Type 3

The SMC3 gene is located on chromosome 10 and is responsible for encoding the Structural Maintenance of Chromosomes 3 protein. This protein is involved in the maintenance and regulation of chromosome structure during cell division. Mutations in the SMC3 gene can cause CdLS type 3, which is characterized by developmental delay, intellectual disability, distinctive facial features, and limb abnormalities.

CdLS type 3 is a rare form of CdLS and is caused by mutations in the SMC3 gene. The incidence of CdLS is estimated to be 1 in 10,000 to 30,000 live births. The severity of CdLS can vary widely, even among individuals with the same genetic mutation. CdLS type 3 is inherited in an autosomal dominant pattern, which means that a person only needs one copy of the mutated gene to develop the disorder.

NGS Genetic DNA Test Cost

The NGS genetic DNA test cost for CdLS type 3 is INR:20000. This test is a comprehensive genetic test that analyzes the entire coding region of the SMC3 gene to identify any mutations or variants that may be associated with CdLS type 3. The test is performed using next-generation sequencing (NGS) technology, which allows for the rapid and accurate detection of genetic variations.

Symptoms of CdLS Type 3

The symptoms of CdLS type 3 can vary widely, even among individuals with the same genetic mutation. Some of the common symptoms of CdLS type 3 include:

• Developmental delay
• Intellectual disability
• Distinctive facial features, including arched eyebrows, long eyelashes, and a small upturned nose
• Limbs abnormalities, including small hands and feet, missing fingers or toes, and joint contractures
• Gastrointestinal problems, including gastroesophageal reflux disease (GERD) and constipation
• Seizures
• Behavioral problems, including hyperactivity and self-injurious behavior

The severity of these symptoms can vary widely, even among individuals with the same genetic mutation. Some individuals may have mild symptoms, while others may have severe symptoms that require lifelong care and support.

Diagnosis of CdLS Type 3

The diagnosis of CdLS type 3 is based on clinical evaluation and genetic testing. A diagnosis of CdLS type 3 can be made if an individual has characteristic facial features and at least three of the following criteria:

• Developmental delay or intellectual disability
• Limb abnormalities
• Gastrointestinal problems
• Seizures
• Behavioral problems

In addition, genetic testing can be performed to confirm a diagnosis of CdLS type 3. The NGS genetic DNA test is the most comprehensive genetic test available for CdLS type 3 and can accurately identify mutations in the SMC3 gene that are associated with the disorder.

Conclusion

CdLS type 3 is a rare genetic disorder that is caused by mutations in the SMC3 gene. The symptoms of CdLS type 3 can vary widely, even among individuals with the same genetic mutation. The NGS genetic DNA test is the most comprehensive genetic test available for CdLS type 3 and can accurately identify mutations in the SMC3 gene that are associated with the disorder. The cost of the NGS genetic DNA test for CdLS type 3 is INR:20000. If you suspect that you or a loved one may have CdLS type 3, it is important to speak with a genetic counselor or healthcare provider for further evaluation and testing.

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 SMC3 Gene Cornelia de Lange syndrome type 3 NGS Genetic DNA Test