Number of Panel Genes: 
2

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

2 Panel Genes: CREBBP, EP300
Next Generation Sequencing
$1,150
Test Code: 2298
Deletion / Duplication
$990
Test Code: 2299
NGS/Del Dup Comprehensive
$1,800
Test Code: 2300

Test Details

Technical Information
Panel Genes: 
CREBBP, EP300
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
Skeletal Dysplasias
Neurological and Muscular Disorders
MIM: 
180849
613684
Billing
Price: 
$1,150
CPT Codes: 
81479 x 1
81407 x 1
Ordering
SKU:
2298
Turnaround Time: 
Typically 2 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: a minimum of 3 µg (at a concentration of at least 30 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: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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