Chondrocalcinosis 2 (CCAL2; MIM 118600), also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), is an autosomal dominant disorder caused by mutations in the ANKH gene. In general, chondrocalcinosis is characterized by the deposition of calcium containing crystals in joints which can cause recurrent acute attacks of joint pain and synovitis (pseudogout). If chronic, this can lead to degenerative joint more

Tests Available

By gene: ANKH
Next Generation Sequencing
Test Code: 1079
Deletion / Duplication
Test Code: 1505
NGS/Del Dup Comprehensive
Test Code: 1506

Test Details

Technical Information
Disease Groups: 
Abnormal Mineralization Disorders
Metabolic and Endocrine 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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