Achondrogenesis, type IB (ACG1B; MIM 600972) is a lethal condition caused by the diastrophic dysplasia sulfate transporter gene mutations (DTDST/SLC26A2). Affected fetuses are usually in breech position and appear hydropic. The limbs and the trunk are more

Tests Available

By gene: SLC26A2
Sanger Sequencing
Test Code: 1003
Deletion / Duplication
Test Code: 1004
NGS/Del Dup Comprehensive
Test Code: 1445

Related Panels
Skeletal dysplasia core & extended NGS panel (29 genes)
NGS $1,300
Del Dup $990
Comp $1,500
Achondrogenesis NGS panel (3 genes)
NGS $1,100
Del Dup $990
Comp $1,300
Skeletal dysplasia core NGS panel (10 genes)
NGS $1,100
Del Dup $990
Comp $1,300

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.

Search Tests

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