Seckel Syndrome Panel

This product is only meant for customers who already purchased a Dante Genome Test

Seckel Syndrome is a rare malformation congenital condition (primordial dwarfism), characterized by typical craniofacial characteristics associated with developmental delay and hematological alterations. It is transmitted in an autosomal recessive manner and is determined by gene mutations, some of which are responsible for DNA repair mechanisms.
This panel is indicated for those with a positive family history of the disease and/or who show the typical signs and symptoms of the condition, also for the purpose of carrying out a differential diagnosis with similar pathologies.

The analysis takes into consideration the mutation of germline DNA, it investigates SNP and Indel mutations up to 150 bp.
  • Available in less than 24 hours
  • Based on Whole Genome Sequencing
  • More than 10 genes analyzed
  • Investigates SNP and Indel mutations up to 150 bp

List of main conditions:
  • Seckel syndrome 1
  • Microcephalic osteodysplastic primordial dwarfism, type II

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