Factor VII deficiency
Gene: F7_MLPA
Factor X deficiency
Gene: F10_MLPA
Episodic ataxia, type 2
Gene: CACNA1A_MLPA
Erythropoietic protoporphyria, AR
Gene: FECH_MLPA
Epileptic encephalopathy, early infantile, type 6
Gene: SCN1A_MLPA
Episodic ataxia, type 1
Gene: KCNA1_MLPA
Epileptic encephalopathy, early infantile, type 2
Gene: CDKL5_MLPA
Epilepsy, generalized, with febrile seizures, GEFS+, type 2
Gene: SCN1A_MLPA
Epidermolysis bullosa, dystrophic
Gene: COL7A1_MLPA
Ellis Van Creveld syndrome
Gene: EVC_MLPA
