Diastrophic dysplasia (DTD; MIM 222600) as well as achondrogenesis type IB (ACG1B; MIM 600972), atelosteogenesis type II (AO2; MIM 256050) and autosomal recessive form of multiple epiphyseal dysplasia (EDM4; MIM 226900) are caused by mutations in the diastrophic dysplasia sulfate transporter (DTDST/SLC26A2)read more

Tests Available

By gene: SLC26A2
Sanger Sequencing
$600
Test Code: 1116
Deletion / Duplication
$680
Test Code: 1117
Sanger/Del Dup Comprehensive
$1,180
Test Code: 1527

Related Panels

Test Details

Technical Information
Genes: 
SLC26A2
Disease Groups: 
Skeletal Dysplasias
MIM: 
222600
Billing
Price: 
$600
CPT Codes: 
81479 x 1
Ordering
SKU:
1116
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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