Rhizomelic chondrodysplasia punctata type 1 (RCDP1; MIM 215100) 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 RCDP1 show punctate calcifications in the epiphyseal cartilage and coronal clefts of the vertebral bodies.read more

Tests Available

By gene: PEX7
Sanger Sequencing
$730
Test Code: 1997
Deletion / Duplication
$680
Test Code: 1998
Sanger/Del Dup Comprehensive
$1,310
Test Code: 1999

Related Panels
Skeletal dysplasia core & extended NGS panel (29 genes)
NGS $1,840
Del Dup $1,300
Comp $2,990
Skeletal dysplasia extended NGS panel (19 genes)
NGS $1,490
Del Dup $1,150
Comp $2,490

Test Details

Technical Information
Genes: 
PEX7
Disease Groups: 
Metabolic and Endocrine Disorders
Neurological and Muscular Disorders
Skeletal Dysplasias
MIM: 
215100
Billing
Price: 
$730
CPT Codes: 
81479 x 1
Ordering
SKU:
1997
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)
Shipping: 

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

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