Short Description

NGS genetic DNA test detecets for variant and mutation detection in C2CD3 gene for Orofaciodigital syndrome type 14

PreTest Information

Clinical History of Patient who is going for C2CD3 Gene Orofaciodigital syndrome type 14 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with C2CD3 Gene Orofaciodigital syndrome type 14 NGS Genetic DNA Test gene C2CD3

Detail Description

DNA Labs India: C2CD3 Gene Orofaciodigital Syndrome Type 14 NGS Genetic DNA Test

Orofaciodigital syndrome type 14 (OFD14) is a rare genetic disorder that affects the development of the face, oral cavity, and digits. It is caused by mutations in the C2CD3 gene, which provides instructions for making a protein that plays a role in the formation of cilia, hair-like structures that protrude from the surface of cells and have important functions in signaling and sensory perception.

OFD14 is inherited in an autosomal recessive manner, which means that an affected individual must inherit two copies of the mutated C2CD3 gene - one from each parent. The disorder is characterized by a range of symptoms that can vary in severity and may include:

• Abnormalities of the face, such as a small head (microcephaly), a broad nasal bridge, and a small chin
• Abnormalities of the oral cavity, such as a cleft palate, missing or extra teeth, and a tongue that is attached to the floor of the mouth
• Abnormalities of the digits, such as extra fingers or toes, fused fingers or toes, and short or absent fingers or toes
• Other features, such as intellectual disability, seizures, and kidney abnormalities

Diagnosis of OFD14 typically involves a physical examination, medical history, and genetic testing. The C2CD3 gene can be analyzed using next-generation sequencing (NGS) technology, which allows for the rapid and accurate detection of mutations in large numbers of genes simultaneously. DNA Labs India offers a C2CD3 Gene Orofaciodigital Syndrome Type 14 NGS Genetic DNA Test that can help diagnose this condition.

The cost of the C2CD3 Gene Orofaciodigital Syndrome Type 14 NGS Genetic DNA Test at DNA Labs India is INR 20,000. This includes the cost of sample collection, DNA extraction, NGS analysis, and interpretation of results by a team of experienced geneticists and genetic counselors. Results are typically available within 2-3 weeks.

If you or a loved one are experiencing symptoms of OFD14 or have a family history of the condition, it is important to seek medical attention and consider genetic testing. DNA Labs India's C2CD3 Gene Orofaciodigital Syndrome Type 14 NGS Genetic DNA Test can provide valuable information for diagnosis and management of this rare disorder.

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Looking for genetic testing services? Contact DNA Labs India today to learn more about our C2CD3 Gene Orofaciodigital Syndrome Type 14 NGS Genetic DNA Test.

The C2CD3 gene is associated with a specific subtype of orofaciodigital syndrome known as Orofaciodigital Syndrome Type 14 (OFD14). This syndrome is a rare genetic disorder that affects the development of the face, mouth, and digits (fingers and toes), leading to a variety of characteristic features and potential health complications.