Nicolaides-Baraitser Syndrome (NCBRS) is a rare genetic disorder characterized by distinctive facial features, sparse hair, prominent finger joints, and developmental delay. This condition is caused by mutations in the SMARCA2 gene, which plays a critical role in chromatin remodeling and thus impacts gene expression necessary for normal development. Recognizing the symptoms of NCBRS is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for NCBRS through the analysis of the SMARCA2 gene, providing a crucial resource for affected families.
Symptoms of Nicolaides-Baraitser Syndrome
Nicolaides-Baraitser Syndrome presents with a spectrum of clinical manifestations, making early diagnosis challenging. The most common symptoms include:
- Distinctive facial features such as a wide nasal bridge, long philtrum, thin upper lip, and widely spaced teeth.
- Sparse or absent hair on the scalp, eyebrows, and eyelashes.
- Seizures, which can vary in severity and onset.
- Intellectual disability or developmental delays.
- Short stature and microcephaly, where the head circumference is smaller than expected for age and sex.
- Prominent interphalangeal joints, leading to unusual finger shapes or sizes.
- Skin abnormalities such as excessive wrinkling or thick skin on the palms and soles.
Due to the variability in symptom presentation, genetic testing for the SMARCA2 gene is essential for a definitive diagnosis.
SMARCA2 Gene Nicolaides Baraitser Syndrome Genetic Test
DNA Labs UAE provides a targeted genetic test for the diagnosis of Nicolaides-Baraitser Syndrome by analyzing mutations in the SMARCA2 gene. This test is a vital tool for families seeking answers about developmental delays and other symptoms consistent with NCBRS. The process involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in our state-of-the-art laboratory.
Benefits of Genetic Testing for NCBRS
Genetic testing for NCBRS offers several benefits:
- Provides a definitive diagnosis, helping to guide appropriate management and interventions.
- Helps families understand the risk of NCBRS in future pregnancies.
- Enables access to support groups and resources specifically for Nicolaides-Baraitser Syndrome.
- Facilitates research into NCBRS, potentially leading to new treatments and therapies.
Test Cost
The cost of the SMARCA2 gene Nicolaides Baraitser Syndrome genetic test at DNA Labs UAE is 4400 AED. This investment covers the comprehensive analysis required to identify mutations in the SMARCA2 gene that are indicative of NCBRS.
Conclusion
Nicolaides-Baraitser Syndrome is a rare condition that significantly impacts affected individuals and their families. Early diagnosis through genetic testing can provide valuable information for managing the syndrome’s symptoms and planning for the future. DNA Labs UAE is committed to offering accurate and reliable genetic testing services, including the SMARCA2 gene test for Nicolaides-Baraitser Syndrome. For more information or to schedule a test, please visit https://dnalabsuae.com/tests/smarca2-gene-nicolaides-baraitser-syndrome-genetic-test/.
