Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive peroxisomal disorder characterized by disproportionate short stature with rhizomelic limb shortening, congenital cataracts, distinct facial features, severe intellectual disability, and seizures. Radiographs of infants with RCDP show punctate calcifications in the epiphyseal cartilage and coronal clefts of the vertebral bodies.read more

Tests Available

By gene: AGPS
Sanger Sequencing
Test Code: 2060
Deletion / Duplication
Test Code: 2061
Sanger/Del Dup Comprehensive
Test Code: 2062

Test Details

Technical Information
Disease Groups: 
Metabolic and Endocrine Disorders
Neurological and Muscular Disorders
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: 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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