Microcephalic Osteodysplastic Primordial Dwarfism, Type II
Gene: PCNT2
Protein: pericentrin
Clinical Characteristics
- Progressive intrauterine growth retardation
- Small for gestational age, typical birth weight is 3 pounds
- Relative microcephaly appears over time
- Disproportionately small forearms with progressive shortening of distal limbs
- Thin delicate bones with progressive metaphyseal widening, may be subtle in newborns
- Prominent nose and eyes
- Microdontia, hypodontia or dysplastic teeth
- Fine sparse hair
- Pigmentary dysplasia of the skin
- Cerebral vascular abnormalities (moyamoya disease) in 20%, can predispose to stroke
Inheritance pattern: Autosomal recessive
What Can Be Learned From This Test
Testing is performed by sequencing all exons and surrounding intronic regions of the PCNT gene. This will detect point mutations, small deletions and small insertions. It will not detect a partial or whole gene deletion or duplication.
PCNT2 is the only gene known to be associated with microcephalic osteodysplastic primordial dwarfism, type II (MOPD2). A negative test does not rule out a diagnosis of MOPD II since a mutation could be in a region not sequenced or in another gene.
Sample Requirements
Draw 2ml–4ml of blood in EDTA/purple-top tube (minimum of 1ml–2ml for infants).
Turnaround time: 4 weeks or less
CPT Codes and Cost
Full Gene Sequencing
- Code: 81479
- Cost: $2,200
Known Variant Testing
- Code: 81479
- Cost: $225