Short Description

NGS genetic DNA test detecets for variant and mutation detection in CENPJ gene for Seckel syndrome type 4

PreTest Information

Clinical History of Patient who is going for CENPJ Gene Seckel syndrome type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CENPJ Gene Seckel syndrome type 4 NGS Genetic DNA Test gene CENPJ

Detail Description

CENPJ Gene Seckel Syndrome Type 4 NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Seckel Syndrome is a rare genetic disorder that affects growth and development. There are several types of Seckel Syndrome, and each type is caused by a mutation in a different gene. One type of Seckel Syndrome is caused by a mutation in the CENPJ gene, which is responsible for the production of a protein that helps to regulate cell division.

The CENPJ gene Seckel Syndrome type 4 NGS Genetic DNA Test is a diagnostic test that can determine if an individual has a mutation in the CENPJ gene. This test uses Next Generation Sequencing (NGS) technology to examine the DNA sequence of the CENPJ gene and identify any mutations. The cost of this test is INR 20000.

Symptoms of Seckel Syndrome Type 4

Seckel Syndrome Type 4 is characterized by severe growth retardation, microcephaly (small head size), and developmental delay. Other symptoms may include:

• Small stature
• Facial abnormalities, such as a beaked nose and a small jaw
• Cognitive impairment
• Delayed speech and language development
• Joint abnormalities
• Eye abnormalities, such as cataracts

Not all individuals with Seckel Syndrome Type 4 will have all of these symptoms, and the severity of symptoms can vary widely between individuals.

Diagnosis of Seckel Syndrome Type 4

The diagnosis of Seckel Syndrome Type 4 is based on clinical evaluation, medical history, and genetic testing. A doctor may suspect Seckel Syndrome Type 4 based on the presence of characteristic symptoms, such as severe growth retardation and microcephaly. Genetic testing, such as the CENPJ gene Seckel Syndrome Type 4 NGS Genetic DNA Test, can confirm the diagnosis by identifying a mutation in the CENPJ gene.

Conclusion

Seckel Syndrome Type 4 is a rare genetic disorder that can cause severe growth retardation, microcephaly, and developmental delay. The CENPJ gene Seckel Syndrome Type 4 NGS Genetic DNA Test is a diagnostic test that can identify a mutation in the CENPJ gene and confirm the diagnosis of Seckel Syndrome Type 4. If you or a loved one are experiencing symptoms of Seckel Syndrome Type 4, it is important to speak with a doctor and consider genetic testing to determine the underlying cause of the symptoms.

At DNA Labs India, we offer a range of genetic testing services, including the CENPJ gene Seckel Syndrome Type 4 NGS Genetic DNA Test. Our team of expert geneticists and counselors are dedicated to providing accurate and reliable testing services to help individuals and families better understand their genetic health. Contact us today to learn more about our services and how we can help you.