Knobloch syndrome 1 (KNO1; MIM 267750) is an autosomal recessive developmental disorder caused by mutations in the COL18A1 gene. It is characterized by eye abnormalities and occipital skull defects. The characteristic eye findings include high myopia, vitreoretinal degeneration, retinal detachment, cataract and lens dislocation. The occipital skull defects range from occult cutis aplasia to occipital more

Tests Available

By gene: COL18A1
Next Generation Sequencing
Test Code: 1942
Deletion / Duplication
Test Code: 1943
NGS/Del Dup Comprehensive
Test Code: 1944

Test Details

Technical Information
Disease Groups: 
Eye 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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