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