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: CREBBP
Next Generation Sequencing
$900
Test Code: 2292
|
Deletion / Duplication
$900
Test Code: 2293
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NGS/Del Dup Comprehensive
$1,100
Test Code: 2294
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Related Panels
Test Details
Technical Information
Genes:
CREBBP
Disease Groups:
Craniosynostosis and Craniofacial Disorders
Neurological and Muscular Disorders
Skeletal Dysplasias
MIM:
180849
Billing
CPT Codes:
81407 x 1
Ordering
SKU:
2292 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:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- 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.