Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant multiple congenital anomaly syndrome characterized by postnatal growth retardation, microcephaly, mental retardation, broad thumbs and halluces and facial dysmorphism. Facial features are striking including heavy, arched eyebrows, long eyelashes, downslanting palpebral fissures, beaked nose, broad nasal bridge, narrow, high-arched palate and characteristic grimacing.read more

Tests Available

By gene: EP300
Next Generation Sequencing
$990
Test Code: 2295
Deletion / Duplication
$680
Test Code: 2296
NGS/Del Dup Comprehensive
$1,570
Test Code: 2297

Related Panels
Rubinstein-Taybi syndrome NGS panel (2 genes)
NGS $1,150
Del Dup $750
Comp $1,800

Test Details

Technical Information
Genes: 
EP300
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
Neurological and Muscular Disorders
Skeletal Dysplasias
MIM: 
613684
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
2295
Turnaround Time: 
Typically 3 to 4 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)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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