Lujan syndrome (LS) (Lujan-Fyns syndrome)

Forms and Documents

Test Details

CUL4B, EZH2, GLI3, GPC3, MED12, NFIX, NSD1, PHF6, PTCH1, PTEN, UPF3B
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with macrocephaly
  • Genetic counseling
  • Diagnostic or carrier testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutations in at-risk pregnancies
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

699
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81321x1, 81323x1, 81401x1, 81405x1, 81406x1
No
Yes
* For price inquiries please email zebras@genedx.com