Meier-Gorlin syndrome (MGORS) is a rare disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, microtia, and hypoplastic or absent patellae. Individuals with Meier-Gorlin syndrome also have distinct facial features, including a small mouth, full lips, and micrognathia. Other common clinical features include pulmonary emphysema, feeding difficulties, delayed bone age, thin long bones, jointread more
Tests Available
By gene: ORC1
|
Next Generation Sequencing
Test Code: 1860
|
Deletion / Duplication
Test Code: 1861
|
NGS/Del Dup Comprehensive
Test Code: 1862
|
Related Panels
Test Details
Technical Information
Genes:
ORC1
Disease Groups:
Skeletal Dysplasias
MIM:
224690
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
1860 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:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- 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.