Epidermolysis Bullosa, Dystrophic (COL7A1)
Test Code: TA53
Pseudoachondroplasia/Multiple Epiphyseal Dysplasia (COMP)
Test Code: TA61
Comprehensive Epilepsy Panel
Test Code: 523
Comprehensive SCID Panel
Test Code: 601
Connexin Gene Testing
Test Code: 119
CPT1A Gene Sequencing & Del/Dup
Test Code: 425
CPT2 Gene Sequencing & Del/Dup
Test Code: 334
Leber Congenital Amaurosis (CRB1)
Test Code: TA83
Cone-rod Retinal Dystrophy (CRX)
Test Code: TA76
DBT Gene Sequencing & Del/Dup
Test Code: 4883
DHCR7 Gene Sequencing & Del/Dup
Test Code: 2502
DKC1 Gene Sequencing
Test Code: 108
DLD Gene Sequencing and Del/Dup
Test Code: 490
EDA1 Gene Sequencing & Del/Dup
Test Code: 1601E
Autosomal Recessive/Dominant Hypohidrotic ED (EDAR)
Test Code: TA50