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: GNPAT
Next Generation Sequencing
$990
Test Code: 2057
Deletion / Duplication
$990
Test Code: 2058
NGS/Del Dup Comprehensive
$1,365
Test Code: 2059

Test Details

Technical Information
Genes: 
GNPAT
Disease Groups: 
Metabolic and Endocrine Disorders
Neurological and Muscular Disorders
Skeletal Dysplasias
MIM: 
222765
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
2057
Turnaround Time: 
Typically 3 to 4 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)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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