Multisystem
- Primary Ciliary Dyskinesia (CCDC39 Exon 3)
- Congenital Keratoconjuctivitis Sicca and Ichthyosiform Dermatosis (CKCSID), Dry Eye Curly Coat Syndrome (FAM83H Exon 5)
- X-linked Ectodermal Dysplasia, Anhydrotic Ectoderal Dysplasia (EDA Intron 8)
- Renal Cystadenocarcinoma and Nodular Dermatofibrosis (RCND) (FLCN Exon 7)
- Glycogen Storage Disease Type II, Pompe's Disease (GAA)
- Glycogen Storage Disease Type Ia, Von Gierke Disease (G6PC)
- Glycogen Storage Disease Type IIIa (GSD IIIa) (AGL)
- Mucopolysaccharidosis Type IIIA, Sanfilippo Syndrome Type A (SGSH Exon 6 Variant 1)
- Mucopolysaccharidosis Type IIIA, Sanfilippo Syndrome Type A (SGSH Exon 6 Variant 2)
- Mucopolysaccharidosis Type VII, Sly Syndrome (GUSB Exon 5)
- Glycogen storage disease Type VII, Phosphofructokinase deficiency (PFKM Exon 8)
- Lagotto Storage Disease (ATG4D)
- Neuronal Ceroid Lipofuscinosis 1 (PPT1 Exon 8)
- Neuronal Ceroid Lipofuscinosis 2 (TPP1 Exon 4)
- Neuronal Ceroid Lipofuscinosis 1 (ARSG Exon 2)
- Neuronal Ceroid Lipofuscinosis 1 (CLN5 Exon 4 Variant 1)
- Neuronal Ceroid Lipofuscinosis 6 (CLN6 Exon 7)
- Neuronal Ceroid Lipofuscinosis 8 (CLN8 Exon 2)
- Neuronal Ceroid Lipofuscinosis (MFSD8)
- Neuronal Ceroid Lipofuscinosis (CLN8)
- Neuronal Ceroid Lipofuscinosis 10 (CTSD Exon 5)
- Neuronal Ceroid Lipofuscinosis (CLN5 Exon 4 Variant 2)
- Adult-Onset Neuronal Ceroid Lipofuscinosis (ATP13A2)
- Gangliosidosis GM1 Gangliosidosis (GLB1 Exon 15 Shiba Inu Variant)
- Gangliosidosis GM1 Gangliosidosis (GLB1 Exon 15 Alaskan Husky Variant)
- Gangliosidosis GM1 Gangliosidosis (GLB1 Exon 2)
- Gangliosidosis GM2 Gangliosidosis (HEXB Exon 3)
- Gangliosidosis GM2 Gangliosidosis (HEXA)
- Globoid Cell Leukodystrophy, Krabbe's disease (GALC Exon 5)
