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 disease.read more

Tests Available

By gene: ANKH
Next Generation Sequencing
$990
Test Code: 1079
Deletion / Duplication
$680
Test Code: 1505
ANKH Del/Dup test includes exons 2 to 12 only
NGS/Del Dup Comprehensive
$1,570
Test Code: 1506
ANKH Del/Dup test includes exons 2 to 12 only

Related Panels
Abnormal mineralization disorders NGS panel (15 genes)
NGS $1,370
Del Dup $1,150
Comp $2,370

Test Details

Technical Information
Genes: 
ANKH
Disease Groups: 
Abnormal Mineralization Disorders
Metabolic and Endocrine Disorders
MIM: 
118600
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
1079
Turnaround Time: 
Typically 3 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: 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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