Number of Panel Genes: 
2

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 limbs.read more

Tests Available

2 Panel Genes: ERCC6, ERCC8
Next Generation Sequencing
$1,100
Test Code: 5367
Deletion / Duplication
$990
Test Code: 5368
NGS/Del Dup Comprehensive
$1,300
Test Code: 5369

Test Details

Technical Information
Panel Genes: 
ERCC6, ERCC8
Disease Groups: 
Neurological and Muscular Disorders
Skeletal Dysplasias
Billing
Price: 
$1,100
CPT Codes: 
81479 x 2
Ordering
SKU:
5367
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: 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: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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