Congenital malformations (“birth defects”) remain a leading cause of infant mortality and childhood morbidity. We offer comprehensive and rapid testing options, including analysis of genome-wide copy number alterations. Genetic testing can provide your patients with a clear diagnosis of inherited malformation and intellectual disability syndromes.
CentoDysmorph is designed to help physicians diagnose patients that suffer from a dysmorphic syndrome. The panel includes craniosynostosis, craniofacial disorders, cleft / lip palate, holoprosencephaly, Waardenburg syndrome, Hirschsprung disease, lissencephaly, and brain malformation disorders, among others.
Additionally, CentoDysmorph includes genes related to RASopathies. RASopathies are a group of genetic syndromes caused by germline mutations in genes that encode components or regulators of the RAS / mitogen-activated protein kinase (MAPK) pathway. This panel includes genes related to neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, capillary malformation-arteriovenous malformation syndrome, Costello syndrome, Cardio-Facio-Cutaneous syndrome, and Legius syndrome, among others. Tuberous sclerosis and McCune Albright syndrome are included for differential diagnosis.
Learn more| TAT | 25 business days |
| Coverage | ≥99.00% ≥20x |
| Methods | NGS including CNV analysis |
Whole Genome Sequencing (WGS), offers the most comprehensive one-step solution with the highest diagnostic yield
Whole Exome Sequencing (WES) enables quicker and cost-effective diagnosis for patients with complex and unclear symptoms
Multiomics give a deeper understanding of human biological processes and acts as a unique and highly effective tool for early diagnosis
Create a diagnostic gene panel by selecting genes tailored to individual patient needs.
2 to >4.000
Selectable Genes
15 Business Days
TAT
Genome or Exome
Backbone
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