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
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Sanger Sequencing
$600
Test Code: 1116
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Deletion / Duplication
$900
Test Code: 1117
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NGS/Del Dup Comprehensive
$1,100
Test Code: 1527
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Test Details
Technical Information
Genes:
SLC26A2
Disease Groups:
Skeletal Dysplasias
MIM:
222600
Billing
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:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping:
Ship all specimen types at room temperature by overnight courier. Do not freeze.