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
$650
Test Code: 1832
Deletion / Duplication
$680
Test Code: 1833
Sanger/Del Dup Comprehensive
$1,230
Test Code: 1834

Test Details

Technical Information
Genes: 
PCYT1A
Disease Groups: 
Skeletal Dysplasias
Eye Disorders
MIM: 
608940
Billing
Price: 
$650
CPT Codes: 
81479 x 1
Ordering
SKU:
1832
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.

Search Tests

TIP: enter a partial disorder name or gene to widen your search