Allgrove (Triple-A) Syndrome (AAAS)
Test Code: TA56
GFAP Gene Sequencing
Test Code: 218
GLA Gene Sequencing & Del/Dup
Test Code: 2321
GPC3 Gene Sequencing & Del/Dup
Test Code: 415E
Septo-Optic Dysplasia (HESX1)
Test Code: TA94
IKBKG (NEMO) Gene Sequencing & Common Del/Dup
Test Code: 553
L1CAM Gene Sequencing & Del/Dup
Test Code: 552
MECP2 Gene Sequencing & Del/Dup
Test Code: 549
Kabuki Syndrome Panel
Test Code: TB04
NSD1 Gene Sequencing & Del/Dup
Test Code: 406
Congenital Insensitivity to Pain and Anhidrosis (NTRK1)
Test Code: TA60
RAI1 Gene Sequencing & Del/Dup
Test Code: 2511
KBG Syndrome (ANKRD11)
Test Code: TB13
GCH1 Gene Sequencing & Del/Dup
Test Code: 527