Variant Names: 
Asphyxiating thoracic dystrophy 2 (ATD2)

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 more

Tests Available

By gene: IFT80
Next Generation Sequencing
Test Code: 1040
Deletion / Duplication
Test Code: 1041
NGS/Del Dup Comprehensive
Test Code: 1481

Related Panels
Skeletal dysplasia ciliopathy NGS panel (15 genes)
NGS $1,900
Del Dup $1,150
Comp $2,900

Test Details

Technical Information
Disease Groups: 
Skeletal Ciliopathies
CPT Codes: 
81479 x 1
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)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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