Number of Panel Genes: 

Brittle cornea syndrome 1 (BCS1; MIM 229200) and brittle cornea syndrome 2 (BCS2; MIM 614170) are autosomal recessive disorders caused by mutations in the zinc finger 469 (ZNF469) and PR domain-containing protein 5 (PRDM5) genes, more

Tests Available

2 Panel Genes: PRDM5, ZNF469
Next Generation Sequencing
Test Code: 5247
Deletion / Duplication
Test Code: 5248
NGS/Del Dup Comprehensive
Test Code: 5249

Test Details

Technical Information
Panel Genes: 
Disease Groups: 
Eye Disorders
Ehlers-Danlos Syndrome and Related 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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