HSPG2 related disorders - Schwartz-Jampel syndrome, type 1 (SJS1; MIM 255800) and dyssegmental dysplasia, Silverman-Handmaker type (DDSH; MIM 224410) are autosomal recessive disorders caused by mutations in the HSPG2 gene. This gene codes for perlecan, a basement membrane heparan sulfate proteoglycan.

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Tests Available

By gene: HSPG2
Sanger Sequencing
Test Code: 1293
Deletion / Duplication
Test Code: 1294
Sanger/Del Dup Comprehensive
Test Code: 1638

Related Panels
Skeletal dysplasia core & extended NGS panel (29 genes)
NGS $3,790
Del Dup $3,450
Comp $7,040
Skeletal dysplasia extended NGS panel (19 genes)
NGS $2,770
Del Dup $2,900
Comp $5,470

Test Details

Technical Information
Disease Groups: 
Skeletal Dysplasias
Neurological and Muscular Disorders
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: 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)

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

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