Number of Panel Genes: 

Cockayne syndrome (CS) is a rare autosomal recessive disorder associated with a variety of clinical findings. The main features include microcephaly, short stature and mental retardation. Other findings include photosensitivity, progeroid appearance, hearing loss and vision loss, dental abnormalities, heart arrhythmias, hepatosplenomegaly, kidney failure, kyphosis, flexion contractures of the joints, and disproportionally long more

Tests Available

2 Panel Genes: ERCC6, ERCC8
Next Generation Sequencing
Test Code: 5367
Deletion / Duplication
Test Code: 5368
NGS/Del Dup Comprehensive
Test Code: 5369

Test Details

Technical Information
Panel Genes: 
Disease Groups: 
Neurological and Muscular Disorders
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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