Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD; MIM 608940) is an autosomal recessive chondrodysplasia caused by mutations in the PCYT1A gene. SMDCRD is one of several spondylometaphyseal dysplasias generally characterized by short stature, flat vertebrae and metaphyseal irregularities.read more

Tests Available

By gene: PCYT1A
Sanger Sequencing
Test Code: 1832
Deletion / Duplication
Test Code: 1833
NGS/Del Dup Comprehensive
Test Code: 1834

Test Details

Technical Information
Disease Groups: 
Skeletal Dysplasias
Eye 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: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 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: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)

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

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