Short Description

NGS genetic DNA test detecets for variant and mutation detection in STAMBP gene for Microcephaly-capillary malformation syndrome

PreTest Information

Clinical History of Patient who is going for STAMBP Gene Microcephaly-capillary malformation syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with STAMBP Gene Microcephaly-capillary malformation syndrome

Detail Description

STAMBP Gene Microcephaly-Capillary Malformation Syndrome NGS Genetic DNA Test Cost INR:20,000 Symptoms Diagnosis

Microcephaly-Capillary Malformation Syndrome (MIC-CAP) is a rare genetic disorder that affects the development of the brain and the formation of blood vessels. It is caused by mutations in the STAMBP gene, which provides instructions for making a protein that plays a role in the regulation of signaling pathways. MIC-CAP is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from one parent to develop the disorder.

Symptoms of MIC-CAP can vary widely, even among affected members of the same family. Common symptoms include:

• Small head size (microcephaly)
• Malformations of the capillaries, which can appear as red or purple spots on the skin (capillary malformations)
• Developmental delay
• Intellectual disability
• Seizures
• Abnormalities of the eyes, ears, and/or teeth

Diagnosis of MIC-CAP typically involves a combination of clinical evaluation, imaging studies, and genetic testing. A genetic test can confirm the presence of a mutation in the STAMBP gene and help to establish a diagnosis. Next-generation sequencing (NGS) is a powerful tool for genetic testing that allows for the simultaneous analysis of multiple genes associated with genetic disorders. NGS testing for MIC-CAP is available through DNA Labs India.

The cost of the STAMBP Gene Microcephaly-Capillary Malformation Syndrome NGS Genetic DNA Test is INR:20,000. This test is performed on a blood or saliva sample and typically takes 2-4 weeks to complete. Results of the test can provide valuable information about the underlying cause of MIC-CAP and may help guide treatment and management decisions.

In conclusion, MIC-CAP is a rare genetic disorder that can have a significant impact on affected individuals and their families. Genetic testing, including NGS testing for the STAMBP gene, can provide important diagnostic information and help to guide treatment and management decisions. DNA Labs India is a trusted provider of genetic testing services, including NGS testing for MIC-CAP, and can help to provide answers and guidance for those affected by this condition.

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 STAMBP Gene Microcephaly-capillary malformation syndrome NGS Genetic DNA Test