Number of Panel Genes: 

Axial spondylometaphyseal dysplasia (SMDAX; MIM 602271) is an autosomal recessive ciliopathy affecting the skeleton and the retina. Typical findings include short stature, narrow thorax, short ribs, cupped anterior ends of ribs, lacy ilia, metaphyseal dysplasia of the proximal femur, and retinal dystrophy. Axial SMD is caused by mutations in either the C21orf2 or NEK1 more

Tests Available

2 Panel Genes: C21orf2, NEK1
Next Generation Sequencing
Test Code: 5254
Deletion / Duplication
Test Code: 5255
NGS/Del Dup Comprehensive
Test Code: 5256

Test Details

Technical Information
Panel Genes: 
C21orf2, NEK1
Disease Groups: 
Eye Disorders
Skeletal Ciliopathies
Skeletal Dysplasias
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 2 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: 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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