Number of Panel Genes: 

Cerebrooculofacioskeletal syndrome (COFS) is an autosomal recessive neurodegenerative disorder. Typical findings consist of congenital microcephaly, cataracts, arthrogryposis, and facial dysmorphism including overhanging upper lip, prominent nose, large ears, and micrognathia. Affected individuals exhibit severe psychomotor developmental delay, axial hypotonia, microphthalmia, cutaneous photosensitivity, sensorineural hearing loss, kyphoscoliosis, and osteoporosis.

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Tests Available

4 Panel Genes: ERCC1, ERCC2, ERCC5, ERCC6
Next Generation Sequencing
Test Code: 5364
Deletion / Duplication
Test Code: 5365
NGS/Del Dup Comprehensive
Test Code: 5366

Test Details

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