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, joint hypermobility, genitalread more

Tests Available

By gene: ORC6
Next Generation Sequencing
$990
Test Code: 1866
Deletion / Duplication
$680
Test Code: 1867
NGS/Del Dup Comprehensive
$1,570
Test Code: 1868

Related Panels
Meier-Gorlin syndrome NGS panel (7 genes)
NGS $1,200
Del Dup $990
Comp $2,040

Test Details

Technical Information
Genes: 
ORC6
Disease Groups: 
Skeletal Dysplasias
MIM: 
613803
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
1866
Turnaround Time: 
Typically 3 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: minimum of 10 µg (at a concentration of at least 50 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: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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