Variant Names: 
Short rib-polydactyly syndrome, type V (SRPS5)

Short-rib thoracic dysplasia 2 with or without polydactyly (SRTD2; MIM 611263), SRTD3 (MIM 613091), SRTD4 (MIM 613819), SRTD5 (MIM 614376), SRTD6 (MIM 263520), SRTD7 (MIM 614091) and SRTD8 (MIM 615503) display similar clinical, radiological and histological features.read more

Tests Available

By gene: WDR35
Next Generation Sequencing
$990
Test Code: 1300
Deletion / Duplication
$990
Test Code: 1301
NGS/Del Dup Comprehensive
$1,365
Test Code: 1642

Related Panels
Skeletal dysplasia ciliopathy NGS panel (19 genes)
NGS $1,620
Del Dup $990
Comp $1,995

Test Details

Technical Information
Genes: 
WDR35
Disease Groups: 
Skeletal Ciliopathies
MIM: 
614091
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
1300
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.

Search Tests

TIP: enter a partial disorder name or gene to widen your search