Kniest dysplasia (MIM 156550) is caused by defects in COL2A1. Shortening of the trunk and limbs is evident at birth. The eyes are prominent, the nasal bridge is depressed and the face is flat and round. Patients may also have cleft palate, clubfoot and inguinal herniae. Joints enlarge through childhood. Retinal detachment and myopia represent eye findings. Hearing loss may also develop.

Tests Available

By gene: COL2A1
Next Generation Sequencing
Test Code: 1170
Deletion / Duplication
Test Code: 1171
NGS/Del Dup Comprehensive
Test Code: 1567

Test Details

Technical Information
Disease Groups: 
Stickler Syndrome and Related Disorders
Skeletal Dysplasias
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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