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Test Code 7719

L1 Syndrome via the L1CAM Gene

L1CAM

2 - 3 weeks (7 - 16 days STAT)

Who is this test for?
  • Individuals with relevant features who have a clinical or suspected diagnosis of L1 syndrome 
  • Males with a strong X-linked family history of hydrocephalus and adducted thumbs 
  • Females with a known or suspected reproductive risk of having a child with L1 syndrome 
Method
NGS with CNV (Exome or Genome Platform)
Specimen(s)

Exome Platform: Blood, DNA, Buccal, Saliva, Tissue

Genome Platform: Blood, DNA

Order Options

Platform
Test type
OTHER OPTIONS
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