Short Description

NGS genetic DNA test detecets for variant and mutation detection in CROCC gene for Neurodevelopmental disorder, CROCC related

PreTest Information

Clinical History of Patient who is going for CROCC Gene Neurodevelopmental disorder, CROCC related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CROCC Gene Neurodevelopmental disorder, CROCC related

Detail Description

CROCC Gene Neurodevelopmental Disorder

CROCC gene mutations are associated with a range of neurodevelopmental disorders. The CROCC gene is responsible for encoding a protein called Rootletin, which is important in the formation and maintenance of cilia, which are small, hair-like structures that protrude from the surface of cells and play a crucial role in various cellular processes. Mutations in the CROCC gene can lead to the malfunctioning of cilia and subsequent neurodevelopmental disorders.

CROCC Related NGS Genetic DNA Test

DNA Labs India offers a CROCC related NGS Genetic DNA Test, which is a next-generation sequencing-based test that can identify mutations in the CROCC gene. This test is a non-invasive and painless procedure that requires only a small sample of blood or saliva. The cost of the CROCC related NGS Genetic DNA Test is INR 20000.

Symptoms

The symptoms of CROCC gene mutations can vary depending on the severity of the mutation and the affected individual. Some common symptoms of CROCC gene mutations include:

• Developmental delays
• Intellectual disability
• Abnormalities in the structure of the brain
• Seizures
• Autism spectrum disorder
• Abnormalities in the structure of the eyes, ears, and kidneys
• Facial dysmorphism

Diagnosis

Diagnosis of CROCC gene mutations can be confirmed through genetic testing, such as the CROCC related NGS Genetic DNA Test offered by DNA Labs India. Other diagnostic tests may include:

• Brain imaging studies
• Hearing and vision tests
• Kidney function tests
• Developmental and behavioral assessments
• Physical examinations

If you suspect that you or a loved one may have a CROCC gene mutation, it is important to seek medical attention and talk to your doctor about genetic testing.

Mutations in the CROCC gene have been associated with a neurodevelopmental disorder known as "Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies." This disorder is caused by variations in the CROCC gene and is characterized by a range of neurological and developmental symptoms.

CROCC (Ciliary Rootlet Coiled-Coil, Rootletin) is a gene that plays a role in the structure and function of cilia, which are tiny hair-like structures found on the surface of many cells. Cilia have important roles in various cellular processes, including signaling and communication. Mutations in the CROCC gene can disrupt cilia formation and function, leading to the neurodevelopmental symptoms associated with the disorder.