Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC39A13 gene for Spondylocheirodysplasia, Ehlers-Danlos syndrome-like

PreTest Information

Clinical History of Patient who is going for SLC39A13 Gene Spondylocheirodysplasia, Ehlers-Danlos syndrome-like NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC39A13 Gene Spondylocheirodysplasia, Ehlers-Danlos syndrome-like NGS Genetic DNA Test gene SLC39A13

Detail Description

SLC39A13 Gene Spondylocheirodysplasia, Ehlers-Danlos Syndrome-like NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

SLC39A13 Gene Spondylocheirodysplasia, Ehlers-Danlos Syndrome-like NGS Genetic DNA Test is a type of genetic test that helps to identify the presence of Spondylocheirodysplasia and Ehlers-Danlos Syndrome-like conditions in an individual. DNA Labs India offers this test at a cost of INR 20000.

What is Spondylocheirodysplasia?

Spondylocheirodysplasia is a rare genetic disorder that affects bone and joint development. Symptoms of this condition can include short stature, malformed fingers and toes, and an abnormally curved spine. This condition is caused by a mutation in the SLC39A13 gene.

What is Ehlers-Danlos Syndrome-like?

Ehlers-Danlos Syndrome-like conditions are a group of genetic disorders that affect connective tissues in the body. Symptoms of these conditions can include hypermobility of the joints, skin that is easily bruised and hyperextensible, and tissue fragility. There are several different types of Ehlers-Danlos Syndrome-like conditions, each caused by a different genetic mutation.

What is an NGS Genetic DNA Test?

NGS (Next-Generation Sequencing) is a type of genetic testing that can analyze multiple genes at once to identify genetic mutations that may be responsible for certain conditions. This type of testing is often used to identify the underlying cause of rare genetic disorders.

Cost of SLC39A13 Gene Spondylocheirodysplasia, Ehlers-Danlos Syndrome-like NGS Genetic DNA Test

The cost of the SLC39A13 Gene Spondylocheirodysplasia, Ehlers-Danlos Syndrome-like NGS Genetic DNA Test at DNA Labs India is INR 20000.

Symptoms of Spondylocheirodysplasia and Ehlers-Danlos Syndrome-like Conditions

The symptoms of Spondylocheirodysplasia and Ehlers-Danlos Syndrome-like conditions can vary depending on the specific genetic mutation involved. However, some common symptoms may include:

• Short stature
• Malformed fingers and toes
• Abnormally curved spine
• Hypermobility of the joints
• Skin that is easily bruised and hyperextensible
• Tissue fragility

Diagnosis of Spondylocheirodysplasia and Ehlers-Danlos Syndrome-like Conditions

Diagnosis of Spondylocheirodysplasia and Ehlers-Danlos Syndrome-like conditions typically involves a combination of genetic testing and physical examination. NGS Genetic DNA testing can help to identify the specific genetic mutation responsible for the condition. A physical examination can help to identify any physical abnormalities associated with the condition.

Conclusion

If you or a loved one is experiencing symptoms of Spondylocheirodysplasia or Ehlers-Danlos Syndrome-like conditions, it may be helpful to undergo genetic testing to identify the underlying cause of the condition. DNA Labs India offers the SLC39A13 Gene Spondylocheirodysplasia, Ehlers-Danlos Syndrome-like NGS Genetic DNA Test at a cost of INR 20000.

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 SLC39A13 Gene Spondylocheirodysplasia, Ehlers-Danlos syndrome-like NGS Genetic DNA Test