Variant Names: 
Ehlers-Danlos syndrome, type VIB

Brittle cornea syndrome 1 (BCS1; MIM 229200), and brittle cornea syndrome 2 (BCS2; MIM 614170), also known as Ehlers-Danlos syndrome, type VIB (EDS VIB) are autosomal recessive disorders caused by mutations in the zinc finger 469 gene (ZNF469) and PR domain-containing protein 5 (PRDM5) genes, respectively.read more

Tests Available

By gene: ZNF469
Sanger Sequencing
$2,030
Test Code: 1064
Deletion / Duplication
$680
Test Code: 1065
Sanger/Del Dup Comprehensive
$2,610
Test Code: 1488

Test Details

Technical Information
Genes: 
ZNF469
Disease Groups: 
Eye Disorders
Ehlers-Danlos Syndrome and Related Disorders
MIM: 
229200
Billing
Price: 
$2,030
CPT Codes: 
81479 x 1
Ordering
SKU:
1064
Turnaround Time: 
Typically 1 to 2 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: minimum of 10 µg (at a concentration of at least 50 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: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 

Ship all specimen types at room temperature by overnight courier. Do not freeze.

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