Meier-Gorlin Syndrome
Also known as: ear, patella, short stature syndrome (EPS) or absent patellae, micrognathia syndrome
Gene: ORC1
Protein: origin recognition complex, subunit 1
Gene: ORC4
Protein: origin recognition complex, subunit 4
Gene: ORC6
Protein: origin recognition complex, subunit 6
Gene: CDT1
Protein: chromatin licensing and DNA replication factor 1
Gene: CDC6
Protein: cell division cycle 6
Clinical Characteristics
- Severe intrauterine and postnatal growth retardation (usually <3rd percentile)
- Infancy period:
- Feeding problems, failure to thrive
- Characteristic facial features:
- Microstomia
- Full lips
- Beaked nose
- Micrognathia
- Craniofacial features:
- Microcephaly
- Bilateral microtia
- Atretic/ small external auditory canals
- Mandibular hypoplasia
- Skeletal features:
- Delayed bone age
- Aplasia or hypoplasia of patellaes
- Slender long bones
- Joint abnormalities
Inheritance pattern: Autosomal recessive for all genes
What Can Be Learned From This Test
Testing is performed by sequencing all exons of the genes as well as partial intronic regions. This will detect point mutations, small deletions and small insertions. It will not detect a partial or whole gene deletion or duplication.
To date, only nonsense and frameshift mutations with single nucleotide insertions or deletions have been detected. Testing of genes can be completed simultaneously or by a tiered approach.
Sample Requirements
Draw 2ml–4ml of blood in EDTA/purple-top tube (minimum of 1ml–2ml for infants).
Turnaround time: 10-14 business days per gene
CPT Codes and Cost
New patient testing (cost with DNA isolation):
ORC1
- Code: 81479
- Cost: $925
ORC4
- Code: 81479
- Cost: $775
ORC6
- Code: 81479
- Cost: $500
CDT1
- Code: 81479
- Cost: $550
CDT6
- Code: 81479
- Cost: $725
Known Variant Testing
- Code: 81479
- Cost: $225
Additional Information