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 I.read more

Tests Available

By gene: SLC26A2
Sanger Sequencing
$600
Test Code: 1051
Deletion / Duplication
$680
Test Code: 1052
Sanger/Del Dup Comprehensive
$1,180
Test Code: 1485

Related Panels
Skeletal dysplasia core & extended NGS panel (29 genes)
NGS $1,840
Del Dup $1,300
Comp $2,990
Skeletal dysplasia core NGS panel (10 genes)
NGS $1,390
Del Dup $990
Comp $2,230

Test Details

Technical Information
Genes: 
SLC26A2
Disease Groups: 
Skeletal Dysplasias
MIM: 
256050
Billing
Price: 
$600
CPT Codes: 
81479 x 1
Ordering
SKU:
1051
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: 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)
Shipping: 

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

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