Short Description

NGS genetic DNA test detecets for variant and mutation detection in DNMT3B gene for Immunodeficiency-centromeric instability-facial anomalies syndrome type 1

PreTest Information

Clinical History of Patient who is going for DNMT3B Gene Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DNMT3B Gene Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 NGS Genetic DNA Test gene DNMT3B

Detail Description

DNMT3B Gene Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1 NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost in India

DNMT3B Gene Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1 (ICF1) is a rare genetic disorder that affects the immune system, causing recurrent infections, facial anomalies, and chromosomal instability. This disorder is caused by mutations in the DNMT3B gene, which plays a crucial role in DNA methylation. The disorder is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disorder.

Symptoms of DNMT3B Gene Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1

The symptoms of ICF1 can vary widely from person to person, even among individuals with the same genetic mutation. Some of the common symptoms of ICF1 include:

• Recurrent infections, such as pneumonia, sinusitis, and ear infections
• Facial anomalies, including a small head size, a small jaw, a flat nasal bridge, and widely spaced eyes
• Chromosomal instability, which can cause abnormalities in the structure and number of chromosomes
• Developmental delays and intellectual disability
• Abnormalities of the immune system, including low levels of white blood cells and antibodies

Diagnosis of DNMT3B Gene Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1

ICF1 is diagnosed through genetic testing, which can identify mutations in the DNMT3B gene. Next-generation sequencing (NGS) is a genetic testing method that can sequence the entire gene and identify mutations that may not be detected by other testing methods. It is important to note that genetic testing is not always able to provide a definitive diagnosis, as some individuals may have genetic mutations that are not yet understood or may have mutations in other genes that cause similar symptoms.

Cost of DNMT3B Gene Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1 NGS Genetic DNA Test in India

The cost of NGS genetic testing for ICF1 in India can vary depending on the specific testing laboratory and the type of testing performed. On average, the cost of NGS genetic testing for ICF1 in India is around INR 20,000. However, it is important to note that this cost may not include additional fees, such as consultation fees, sample collection fees, or shipping fees. It is recommended that individuals contact the testing laboratory directly to obtain a detailed cost estimate.

Conclusion

ICF1 is a rare genetic disorder that can cause significant health problems, including recurrent infections, developmental delays, and chromosomal instability. Genetic testing, specifically NGS, can help to identify mutations in the DNMT3B gene and provide a definitive diagnosis. The cost of NGS genetic testing for ICF1 in India can vary, and individuals should contact the testing laboratory directly for a detailed cost estimate.