Ohdo syndrome, SBBYS variant (SBBYSS) - Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS; MIM 603736) is a variant of Ohdo syndrome, a disorder characterized by blepharophimosis and mental retardation.  Individuals with SBBYSS have a distinct facial appearance with severe blepharophimosis, ptosis and an immobile, expressionless face.  Other common features include mental retardation, unusually long thumbs and great toes, joint hypermobility, dentalread more

Tests Available

By gene: KAT6B
Sanger Sequencing
Test Code: 1811
Deletion / Duplication
Test Code: 1812
Sanger/Del Dup Comprehensive
Test Code: 1813

Test Details

Technical Information
Disease Groups: 
Neurological and Muscular Disorders
Eye Disorders
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 1 to 2 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)

Ship all specimen types at room temperature by overnight courier. Do not freeze.

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