Spondyloenchondrodysplasia with immune dysregulation (SPENCDI; MIM 607944) is an autosomal recessive disorder characterized by short stature, progressive metaphyseal irregularities, most often involving the long bones at the wrists and knees, which eventually resemble enchondromas, platyspondyly with vertebral endplate irregularities, intracranial calcifications and spasticity. These skeletal findings are frequently associated with various autoimmuneread more
Tests Available
By gene: ACP5
Sanger Sequencing
$560
Test Code: 1829
|
Deletion / Duplication
$900
Test Code: 1830
|
NGS/Del Dup Comprehensive
$1,100
Test Code: 1831
|
Test Details
Technical Information
Genes:
ACP5
MIM:
607944
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
1829 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.