Short Description

NGS genetic DNA test detecets for variant and mutation detection in SETBP1 gene for Schinzel-Giedion midface retraction syndrome

PreTest Information

Clinical History of Patient who is going for SETBP1 Gene Schinzel-Giedion midface retraction syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SETBP1 Gene Schinzel-Giedion midface retraction syndrome NGS Genetic DNA Test gene SETBP1

Detail Description

SETBP1 Gene Schinzel-Giedion Midface Retraction Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Schizel-Giedion midface retraction syndrome is a rare genetic condition that affects a small number of individuals worldwide. It is caused by a mutation in the SETBP1 gene and can result in a variety of physical and developmental abnormalities. The condition is typically diagnosed in infancy or early childhood, and genetic testing is often necessary to confirm a diagnosis. DNA Labs India offers a specialized NGS genetic DNA test for SETBP1 gene mutations at a cost of INR 20,000.

What is Schinzel-Giedion Midface Retraction Syndrome?

Schizel-Giedion midface retraction syndrome is a rare genetic condition that affects the development of multiple organ systems in the body. It is caused by a mutation in the SETBP1 gene, which provides instructions for the production of a protein that is involved in the regulation of cell growth and division. The exact mechanism by which this mutation leads to the symptoms of the condition is not fully understood, but it is thought to disrupt the normal development of certain structures in the body.

Symptoms of Schinzel-Giedion Midface Retraction Syndrome

The symptoms of Schizel-Giedion midface retraction syndrome can vary widely from person to person, but some of the most common features include:

• Midface retrusion (underdevelopment of the middle portion of the face)
• Distinctive facial features, including a prominent forehead, deep-set eyes, and a small chin
• Developmental delay and intellectual disability
• Seizures
• Abnormal curvature of the spine (scoliosis)
• Joint contractures (stiffness in the joints)
• Heart defects
• Hydrocephalus (excess fluid in the brain)
• Respiratory problems

Diagnosis of Schinzel-Giedion Midface Retraction Syndrome

Diagnosis of Schizel-Giedion midface retraction syndrome can be challenging, as the condition is rare and the symptoms can be quite variable. However, genetic testing is often necessary to confirm a diagnosis, particularly if the condition is suspected based on the presence of certain physical features and developmental delays. DNA Labs India offers a specialized NGS genetic DNA test for SETBP1 gene mutations that can be used to confirm a diagnosis of Schinzel-Giedion midface retraction syndrome.

NGS Genetic DNA Test for SETBP1 Gene Mutations

The NGS genetic DNA test for SETBP1 gene mutations offered by DNA Labs India is a highly specialized test that is designed to detect mutations in the SETBP1 gene that are associated with Schinzel-Giedion midface retraction syndrome. The test is performed using a small sample of blood or saliva, and results are typically available within a few weeks. The cost of the test is INR 20,000.

Conclusion

Schinzel-Giedion midface retraction syndrome is a rare genetic condition that can cause a variety of physical and developmental abnormalities. Genetic testing is often necessary to confirm a diagnosis, and DNA Labs India offers a specialized NGS genetic DNA test for SETBP1 gene mutations at a cost of INR 20,000. If you suspect that you or a loved one may have Schinzel-Giedion midface retraction syndrome, speak to your doctor about the possibility of genetic testing.