Craniometaphyseal dysplasia, autosomal dominant (CMDD; MIM 123000) is a sclerosing bone disorder caused by loss of function mutations in the ANKH gene. Progressive thickening of the craniofacial bones leads to sclerosis of the skull base, facial palsy, early-onset hearing loss, obliteration of the sinuses, and malocclusion and crowding of the teeth. Affected individuals typically have normal stature but display undermodeling of the tubular bones and metaphyseal more

Tests Available

By gene: ANKH
Next Generation Sequencing
Test Code: 1087
Deletion / Duplication
Test Code: 1511
NGS/Del Dup Comprehensive
Test Code: 1512

Test Details

Technical Information
Disease Groups: 
Osteopetrosis and High Bone Density 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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