Pycnodysostosis (PKND; MIM 265800) is a rare autosomal recessive lysosomal disease with short stature, osteosclerosis and increased bone fragility. Craniofacial findings include persistent open anterior fontanelle, frontal bossing and micrognathia.  Patients often have acro-osteolysis of the terminal phalanges. PKND is caused by mutations in the cathepsin K gene (CTSK). Cathepsin K is a member of the papain family of cysteine more

Tests Available

By gene: CTSK
Sanger Sequencing
Test Code: 1881
Deletion / Duplication
Test Code: 1882
NGS/Del Dup Comprehensive
Test Code: 1883

Test Details

Technical Information
Disease Groups: 
Osteopetrosis and High Bone Density Disorders
CPT Codes: 
81479 x 1
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: 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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