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Test Code 11093

Periventricular Heterotopia with Microcephaly via the ARFGEF2 Gene

ARFGEF2

N/A

Who is this test for?

ARFGEF2 testing should be considered in patients with MRI evidence of periventricular heterotopia for which mutations in FLNA were not identified. ARFGEF2 sequencing might also be considered in unexplained cases of West syndrome (Banne et al. 2013). This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ARFGEF2.

Method
Sequencing with CNV PGxome
Specimen(s)

Blood, Saliva, or Buccal Swab

Order Options

Platform
Test type
OTHER OPTIONS
for standard institutional pricing.

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