Three M syndrome 1 (3M1; MIM 273750) , 2 (3M2; MIM 612921) and 3 (3M3; MIM 614205) are autosomal recessive disorders characterized by pre- and postnatal growth retardation, large head circumference, and a characteristic facial appearance including a pointed triangular shaped face, frontal bossing, midface hypoplasia, a short upturned nose with anteverted nares and full more

Tests Available

By gene: CCDC8
Sanger Sequencing
Test Code: 1347
Deletion / Duplication
Test Code: 1348
NGS/Del Dup Comprehensive
Test Code: 1673

Test Details

Technical Information
Disease Groups: 
Skeletal Dysplasias
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 1 to 2 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)

Ship all specimen types at room temperature by overnight courier. Do not freeze.

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