DUBOWITZ SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 2 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Dubowitz Syndrome panel analyzes the LIG4 and NSUN2 genes, which are associated with this rare genetic disorder characterized by pre- and postnatal growth retardation, microcephaly, typical facial dysmorphisms, eczema, variable immunodeficiency, and developmental delay. This syndrome shares clinical features with other diseases on the DNA repair spectrum and neurocutaneous developmental disorders.
Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this panel allows for confirmation of the molecular diagnosis, differentiation from phenotypically overlapping syndromes, and guidance of clinical follow-up and family genetic counseling. The included genes are LIG4 and NSUN2. For a complete list of genes, please contact Genotica.
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