Atelosteogenesis, type II (AOII; MIM 256050) is a disorder caused by mutations in the diastrophic dysplasia sulfate transporter gene (DTDST/SLC26A2). AOII is invariably lethal with survival measured in months. AOII is characterized by severe micromelia, spinal abnormalities, talipes equinovarus and abducted thumbs and toes. It is also known as neonatal osseous dysplasia more

Tests Available

By gene: SLC26A2
Sanger Sequencing
Test Code: 1051
Deletion / Duplication
Test Code: 1052
NGS/Del Dup Comprehensive
Test Code: 1485

Test Details

Technical Information
Disease Groups: 
Skeletal Dysplasias
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 1 to 2 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: 2 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: 2 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)

Ship all specimen types at room temperature by overnight courier. Do not freeze.

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