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 flaring.read more

Tests Available

By gene: ANKH
Next Generation Sequencing
$990
Test Code: 1087
Deletion / Duplication
$990
Test Code: 1511
NGS/Del Dup Comprehensive
$1,365
Test Code: 1512

Related Panels
Abnormal mineralization disorders NGS panel (15 genes)
NGS $1,370
Del Dup $990
Comp $1,745
Dense bone dysplasia NGS panel (14 genes)
NGS $1,320
Del Dup $990
Comp $1,695

Test Details

Technical Information
Genes: 
ANKH
Disease Groups: 
Osteopetrosis and High Bone Density Disorders
MIM: 
123000
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
1087
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: 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: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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