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Macrocephaly is a clinical diagnosis where the measured head circumference is larger than 2 standard deviations above the average for individuals at a common age. Abnormal skull formations are also associated to abnormalities in brain development and intellectual disabilities. These conditions can be inherited in an autosomal dominant, recessive or X-linked manner.

Reasons for Referral:

  • Head circumference measures greater than two standard deviations from normal
  • Suspected genetic etiology of a brain malformation
  • Carrier testing
  • Positive family history


Next generation sequencing using Illumina NextSeq 500 technology of the 11 genes associated with macrocephaly listed below:

Macrocephaly Panel (11 genes): CUL4B, EZH2, GLI3, MED12, NFIX, NSD1, PHF6, PIK3CA, PTCH1, PTEN, UPF3B

Specimen Requirements:

  • Blood: EDTA or ACD (Solution A or B):
  • Adult: 5 mL
  • Child: 5 mL
  • Infant: 2-3 mL
  • Saliva: 1 ORAgene Saliva Kit (OGR-500)
  • Skin Fibroblast: Punch Biopsy, or 2 T-25 confluent flasks
  • DNA: 1-2µg at a minimum of 50-100ng/µL (DNA must be extracted in a CLIA-certified laboratory or a laboratory meeting equivalent requirements as determined by the CAP and/or CMS)

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):


Turn Around Time:

8 weeks

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.


Additional Info:

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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