• Test Code:
    2000
  • Department:
  • Test Synonyms:
    ASPMATRATRXCASKCDK5RAP2CDKL5CENPJCEP152DHCR7FOXG1IER3IP1MCPH1MECP2MYCN NIPBLPCNTRAB18RAB3GAP1RAB3GAP2RBBP8SLC25A19SLC9A6STILTCF4TUBB3UBE3AWDR62ZEB2
  • CPT Code(s):
    813028140481405x281406x48140781479x19
Background:

Microcephaly is defined by a patient’s head circumference dropping below two standard deviations relative to normal children of the same age. Individuals with microcephaly may also have slow brain development and at times display intellectual disabilities, seizures/epilepsy or other dysmorphic features. This sequencing test assess genes that associates with syndromes where microcephaly is a clinical feature, these include Rett syndrome, Angelman syndrome, autosomal recessive primary microcephaly. While conditions can follow a recessive form but may also be dominant or X-linked.

Reasons for Referral:

  • Head circumference measures two standard deviations below average
  • Carrier testing
  • Positive family history

Methodology:

Next generation sequencing will analyze the exons or coding regions of 28 microcephaly-associated genes using Illumina NextSeq 500 technology.  Samples are prepared using hybridization probes to enrich exonic regions.  Promoter, intronic, etc. regions are not assessed on our assay, but may contain variants that impact gene function.

Microcephaly Panel (28 genes):  ASPM, ATR, ATRX, CASK, CDK5RAP2, CDKL5, CENPJ, CEP152, DHCR7, FOXG1, IER3IP1, MCPH1, MECP2, MYCN, NIPBL, PCNT, RAB18, RAB3GAP1, RAB3GAP2, RBBP8, SLC25A19, SLC9A6, STIL, TCF4, TUBB3, UBE3A, WDR62, ZEB2

Specimen Requirements:

Blood: EDTA or ACD (Solution A or B):

  • Adult: 5 mL
  • Child: 5 mL
  • Infant: 2-3 mL

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

Test Performed (Days):

Weekly

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.

References:

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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