For symptoms involving: Drug Metabolism, Nervous System, Hearing, Vision
|
Number of Alleles Tested: 174 |
|
Condition |
Gene(s) |
|
AC-3933 Poor Metabolizer 1 |
CYP1A2 |
|
Achromatopsia 1-4 |
CNGA3, CNGB3 |
|
Acral Mutilation Syndrome |
GDNF |
|
Alexander Disease |
GFAP |
|
Beta Mannosidosis 1, 2 |
MANBA |
|
Bilateral Deafness and Vestibular Dysfunction |
MYO7A |
|
Cerebellar Ataxia 1,2 |
RAB24, KCNIP4 |
|
Cerebellar Cortical Degeneration |
SNX14 |
|
Cerebellar Hypoplasia |
VLDLR |
|
Collie Eye Anomaly |
NHEJ1 |
|
Cone Rod Dystrophy, Age of Onset Modifier |
MAP9 |
|
Cone-Rod Dystrophy 1-4 |
NPHP4, IQCB1, RPGRIP1 |
|
Congenital Eye Malformations |
SIX6 |
|
Congenital Myasthenic Syndrome 1-5 |
CHAT, CHRNE, COLQ |
|
Copper Toxicosis |
COMMD1 |
|
Deafness, Unilateral and Vestibular Dysfunction |
PTPRQ |
|
Degenerative Myelopathy |
SOD1 |
|
Demyelinating Peripheral Neuropathy |
SBF2 |
|
Dermoid Sinus |
FGF3 |
|
Early Onset Cataracts 1, 2 |
HSF4 |
|
Early Retinal Degeneration |
STK38L |
|
Epileptic Drug Resistance |
ABCB1 |
|
Episodic Falling Syndrome |
BCAN |
|
Fetal Onset Neuroaxonal Dystrophy |
MFN2 |
|
Fucosidosis Alpha |
FUCA1 |
|
Gangliosidosis 1-3 |
GLB1 |
|
Generalized Myoclonic Epilepsy |
DIRAS1 |
|
Generalized Progressive Retinal Atrophy 1, 2 |
ADAM9, CCDC66 |
|
Globoid Cell Leukodystrophy 1, 2 |
GALC |
|
GM2 Gangliosidosis Type I |
HEXA |
|
GM2 Gangliosidosis Type II 1, 2 |
HEXB |
|
Hepatic Copper Toxicosis |
ATP7B |
|
Hyperekplexia 1, 2 |
SLC6A5 |
|
Hypomyelination of Central Nervous System |
FNIP2 |
|
Hypophosphatasia |
ALPL |
|
Ivermectin Sensitivity 1, 2 |
ABCB1 |
|
L-2-Hydroxyglutaric Aciduria 1, 2 |
L2HGDH |
|
Lagotto Storage Disease |
ATG4D |
|
Laryngeal Paralysis Risk Factor |
RAPGEF6 |
|
Leber Congenital Amaurosis |
RPE65 |
|
Leukodystrophy 1, 2 |
CYTB, TSEN54 |
|
Leukoencephalopathy 1, 2 |
NAPEPLD |
|
Macular Corneal Dystrophy |
LOC489707 |
|
Merle/Cryptic Merle |
PMEL |
|
Micropthalmia |
RBP4 |
|
Mucopolysaccharidosis Type I |
IDUA |
|
Mucopolysaccharidosis Type IIIA 1, 2 |
SGSH |
|
Mucopolysaccharidosis Type IIIB 1, 2 |
NAGLU |
|
Multifocal Retinopathy I 1, 2 |
BEST1 |
|
Multifocal Retinopathy II |
BEST1 |
|
Multifocal Retinopathy III 1, 2 |
BEST1 |
|
Myoclonus Epilepsy of Lafora |
NHLRC1 |
|
Myotubular Myopathy 1, 2 |
MTM1 |
|
Narcolepsy 1-3 |
HCRTR2 |
|
Necrotising Encephalopathy |
SLC19A3 |
|
Neonatal Cerebellar Ataxia |
GRM1 |
|
Neonatal Encephalopathy With Seizures |
ATF2 |
|
Neuroaxonal Dystrophy 1-3 |
PLA2G6, TECPR2, VPS11 |
|
Neuronal Ceroid Lipofuscinosis 1 |
PPT1 |
|
Neuronal Ceroid Lipofuscinosis 2 |
TPP1 |
|
Neuronal Ceroid Lipofuscinosis 3 |
PPT1 |
|
Neuronal Ceroid Lipofuscinosis 4A 1 |
ARSG |
|
Neuronal Ceroid Lipofuscinosis 5 1, 2 |
CLN5 |
|
Neuronal Ceroid Lipofuscinosis 6 |
CLN6 |
|
Neuronal Ceroid Lipofuscinosis 7 |
MFSD8 |
|
Neuronal Ceroid Lipofuscinosis 8 1-4 |
CLN8 |
|
Neuronal Ceroid Lipofuscinosis 10 |
CTSD |
|
Neuronal Ceroid Lipofuscinosis 12 1, 2 |
ATP13A2 |
|
Oculocutaneous Albinism |
OCA2 |
|
Oculocutaneous Albinism Type IV 1-3 |
SLC45A2 |
|
Oculoskeletal Dysplasia I 1, 2 |
COL9A3 |
|
Oculoskeletal Dysplasia II |
COL9A2 |
|
Osteochondromatosis |
EXT2 |
|
Paroxysmal Dyskinesia |
PIGN |
|
Periodic Fever Syndrome |
MTBP |
|
Photoreceptor Dysplasia |
PPT1 |
|
Polyneuropathy 1-6 |
NDRG1, RAB3GAP1, ARHGEF10, GJA9 |
|
Pompe Disease |
GAA |
|
Primary Glaucoma 1, 2 |
ADAMTS10 |
|
Primary Lens Luxation |
ADAMTS17 |
|
Primary Open Angle Glaucoma 1-3 |
ADAMTS17 |
|
Primary Open Angle Glaucoma and/or Primary Lens Luxation |
ADAMTS17 |
|
Progressive Early Onset Cerebellar Ataxia |
SEL1L |
|
Progressive Retinal Atrophy 1-10 |
BBS4, HIVEP3, CNGA1, CNGB1, MERTK, NECAP1, SAG1, SLC4A3, TTC8, RHO |
|
Progressive Retinal Atrophy Type 2 |
C17H2orf71 |
|
Progressive Retinal Atrophy X-Linked Type 1, 1-3 |
RPGR |
|
Progressive Retinal Atrophy X-Linked Type 2 |
RPGR |
|
Progressive Rod-Cone Degeneration (PRCD-PRA) |
PRCD |
|
Protection Against Liver Copper Accumulation |
ATP7A |
|
Refractory Idiopathic Epilepsy |
ABCB1 |
|
Remitting Focal Epilepsy |
LGI2 |
|
Rod-Cone Dysplasia Type 1, 1-4 |
PDE6B |
|
Rod-Cone Dysplasia Type 3 |
PDE6A |
|
Selective Cobalamin Malabsorption 1-3 |
CUBN |
|
Sensory Ataxic Neuropathy |
tRNA-TYR |
|
Sensory Neuropathy |
FAM134B |
|
Spinal Dyraphism |
NKX2-8 |
|
Spinocerebellar Ataxia 1-7 |
SCN8A, KCNJ10, SPTBN2, CAPN1, ITPR1 |
|
Spongy Degeneration with Cerebellar Ataxia 1, 2 |
ATP1B2 |
|
Stargardt Disease |
ABCA4 |
|
Tremor |
PLP |

