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Panel Listing
Four
GeneAware
panels are offered for your convenience. Females are screened for X-linked Duchenne and Becker muscular dystrophies and Fragile-X syndrome in all four panel options.
Download GeneAware Panel Listing
Complete
Panel (158)
ACMG and ACOG
Panel (14)
Ashkenazi Jewish
Panel (39)
Basic
Panel (6)
Complete Panel (158)
3-Hydroxy-3-Methylglutaryl CoA (HMG-CoA) lyase Deficiency (
HMGCL
)
Hypophosphatasia (
ALPL
)
3-phosphoglycerate dehydrogenase deficiency (
PHGDH
)
Inclusion Body Myopathy 2 (
GNE
)
Abetalipoproteinaemia (
MTTP
)
Infantile neuroaxonal dystrophy 1 (
PLA2G6
)
Adenosine Deaminase Deficiency (
ADA
)
Isovaleric Acidemia (
IVD
)
Adrenoleukodystrophy (
ABCD1
)
Joubert Syndrome, TMEM216 Related (
TMEM216
)
Agammaglobulinemia, X-linked 1 (
BTK
)
Juvenile Nephronophthisis (
NPHP1
)
Alpha-1-Antitrypsin Deficiency (
SERPINA1
)
Krabbe Disease (
GALC
)
Alpha-Mannosidosis (
MAN2B1
)
Leigh Syndrome: French-Canadian Type (
LRPPRC
)
Alpha-Thalassemia (
HBA1/HBA2
)
Leukoencephalopathy with Vanishing White Matter, EIF2B5 Related (
EIF2B5
)
Alport syndrome (
COL4A3
)
Limb-Girdle Muscular Dystrophy, Type 2A (
CAPN3
)
Angelman syndrome (
UBE3A
)
Limb-Girdle Muscular Dystrophy, Type 2C (
SGCG
)
Argininosuccinate Lyase Deficiency (
ASL
)
Limb-Girdle Muscular Dystrophy, Type 2D (
SGCA
)
ARSACS (
SACS
)
Llimb-Girdle Muscular Dystrophy, Type 2E (
SGCB
)
Arthrogryposis, mental retardataion and seizures (
SLC35A3
)
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (
HADHA
)
Aspartylglucosaminuria (
AGA
)
Lowe syndrome (
OCRL
)
Ataxia with Vitamin E Deficiency (
TTPA
)
Lysinuric Protein Intolerance (
SLC7A7
)
Ataxia-Telangiectasia (
ATM
)
Maple syrup urine disease, type II (
DBT
)
Atelosteogenesis Type 2 (
SLC26A2
)
Maple Syrup Urine Disease: Type 1A (
BCKDHA
)
Autosomal Recessive Congenital Ichthyosis, TGM1 Related (
TGM1
)
Maple Syrup Urine Disease: Type 1B (
BCKDHB
)
Autosomal Recessive Polycystic Kidney Disease (
PKHD1
)
MECP2 duplication syndrome (
MECP2
)
Bardet-Biedl syndrome (
BBS2
)
Medium Chain Acyl-CoA Dehydrogenase Deficiency (
ACADM
)
Bardet-Biedl Syndrome: BBS1 Related (
BBS1
)
Megalencephalic Leukoencephalopathy with Subcortical Cysts, MLC1 Related (
MLC1
)
Bardet-Biedl Syndrome: BBS10 Related (
BBS10
)
Metachromatic Leukodystrophy (
ARSA
)
Beta Hemoglobinopathies (Beta-thalassemia and Sickle Cell) (
HBB
)
Methylmalonic Aciduria and Homocystinuria: Type cblC (
MMACHC
)
BH4-Deficient Hyperphenylalaninemia A (
PTS
)
Mucolipidosis II (
GNPTAB
)
Biotinidase Deficiency (
BTD
)
Mucolipidosis IV (
MCOLN1
)
Bloom Syndrome (
BLM
)
Mucopolysaccharidosis Type I (
IDUA
)
Canavan Disease (
ASPA
)
Mucopolysaccharidosis, Type IIIA (Sanfilippo Syndrome A) (
SGSH
)
Carnitine deficiency, systemic primary (
SLC22A5
)
Multiple sulphatase deficiency (
SUMF1
)
Carnitine Palmitoyltransferase IA Deficiency (
CPT1A
)
Muscle-Eye-Brain Disease (
POMGNT1
)
Carnitine Palmitoyltransferase II Deficiency (
CPT2
)
Nemaline Myopathy: NEB Related (
NEB
)
Cartilage-Hair Hypoplasia (
RMRP
)
Nephrotic Syndrome: Type 1 (
NPHS1
)
Cerebrotendinous Xanthomatosis (
CYP27A1
)
Nephrotic Syndrome: Type2 (
NPHS2
)
Chronic granulomatous disease, X-linked (
CYBB
)
Neuronal Ceroid Lipofuscinosis, CLN3-Related (
CLN3
)
Citrin Deficiency (
SLC25A13
)
Neuronal Ceroid Lipofuscinosis, CLN5-Related (
CLN5
)
Citrullinemia Type I (
ASS1
)
Neuronal Ceroid Lipofuscinosis, CLN6-Related (
CLN6
)
Congenital Amegakaryocytic Thrombocytopenia (
MPL
)
Neuronal Ceroid Lipofuscinosis, CLN8-Related (
CLN8
)
Congenital Disorder of Glycosylation: Type Ia (
PMM2
)
Neuronal Ceroid Lipofuscinosis, PPT1-Related (
PPT1
)
Congenital Disorder of Glycosylation: Type Ib (
MPI
)
Neuronal Ceroid Lipofuscinosis, TPP1-Related (
TPP1
)
Congenital Myasthenic Syndrome, CHRNE-Related (
CHRNE
)
Niemann-Pick Disease, Type A (
SMPD1
)
Congenital Myasthenic Syndrome, DOK7-Related (
DOK7
)
Niemann-Pick Disease, Type C (
NPC1
)
Congenital Myasthenic Syndrome, RAPSN-Related (
RAPSN
)
Nijmegen Breakage Syndrome (
NBN
)
Congenital Myasthenic Syndrome, CHAT-Related (
CHAT
)
Nonsyndromic Hearing Loss and Deafness, DFNB1: GJB2 related (
GJB2
)
Crigler-Najjar Syndrome (
UGT1A1
)
Nonsyndromic Hearing Loss and Deafness: DFNB1: GJB6 related (
GJB6
)
Cystic Fibrosis (
CFTR
)
Ornithine transcarbamylase deficiency (
OTC
)
Cystinosis (
CTNS
)
Pendred Syndrome (
SLC26A4
)
D-Bifunctional Protein Deficiency (
HSD17B4
)
Phenylalanine Hydroxylase Deficiency (
PAH
)
Dihydrolipoamide Dehydrogenase Deficiency (
DLD
)
POLG-Related Disorders (
POLG
)
Dihydropyrimidine Dehydrogenase Deficiency (
DPYD
)
Primary Hyperoxaluria: Type 1 (
AGXT
)
Duchenne/Becker Muscular Dystrophy (
DMD
)
Primary Hyperoxaluria: Type 2 (
GRHPR
)
Dyskeratosis congenita (
RTEL1
)
Primary Congenital Glaucoma (
CYP1B1
)
Ehlers-Danlos syndrome VIIc (
ADAMTS2
)
PROP1-Related Combined Pituitary Hormone Deficiency (
PROP1
)
Ethylmalonic Encephalopathy (
ETHE1
)
Propionic Acidemia, PCCA Related (
PCCA
)
Familial Dysautonomia (
IKBKAP
)
Propionic Acidemia, PCCB Related (
PCCB
)
Familial Hyperinsulinism (
ABCC8
)
Pycnodysostosis (
CTSK
)
Fanconi Anaemia (
FANCC
)
Pyruvate Carboxylase Deficiency (
PC
)
Fragile-X syndrome (
FMR1
)
Retinitis pigmentosa, autosomal recessive (
DHDDS
)
Fukuyama Congenital Muscular Dystrophy (
FKTN
)
Rhizomelic Chondrodysplasia Punctata: Type 1 (
PEX7
)
Fumarase Hydratase Deficiency (
FH
)
Salla Disease (
SLC17A5
)
Galactosemia (
GALT
)
Sandhoff Disease (
HEXB
)
Gaucher Disease (
GBA
)
Severe Combined Immunodeficiency, Athabascan type (
DCLRE1C
)
Glucose-6-Phosphate Dehydrogenase Deficiency (
G6PD
)
Severe combined immunodeficiency, X-linked (
IL2RG
)
Glutaric Acidemia I (
GCDH
)
Sjogren-Larsson Syndrome (
ALDH3A2
)
Glycine encephalopathy (
AMT
)
Smith-Lemli-Opitz Syndrome (
DHCR7
)
Glycine encephalopathy (
GLDC
)
Spinal Muscular Atrophy (
SMN1
)
Glycogen Storage Disease Type II (Pompe Disease) (
GAA
)
Tay-Sachs Disease (
HEXA
)
Glycogen Storage Disease Type III (
AGL
)
Tyrosine Hydroxylase Deficiency (
TH
)
Glycogen Storage Disease: Type Ia (
G6PC
)
Tyrosinemia: Type I (
FAH
)
Glycogen Storage Disease: Type Ib (
SLC37A4
)
Usher Syndrome: Type IB (
MYO7A
)
GM1-gangliosidosis (
GLB1
)
Usher Syndrome: Type IC (
USH1C
)
GRACILE syndrome (
BCS1L
)
Usher Syndrome: Type ID (
CDH23
)
Hereditary Fructose Intolerance (
ALDOB
)
Usher Syndrome: Type IF (
PCDH15
)
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum (
SLC12A6
)
Usher Syndrome: Type IIA (
USH2A
)
Herlitz Junctional Epidermolysis Bullosa: LAMA3 Related (
LAMA3
)
Usher Syndrome: Type IIIA (
CLRN1
)
Herlitz Junctional Epidermolysis Bullosa: LAMB3 Related (
LAMB3
)
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (
ACADVL
)
Herlitz Junctional Epidermolysis Bullosa: LAMC2 Related (
LAMC2
)
Wilson Disease (
ATP7B
)
Hermansky-Pudlak Syndrome: HPS3 Related (
HPS3
)
Wiskott-Aldrich syndrome (
WAS
)
Homocystinuria Caused by Cystathione Beta-Synthase Deficiency (
CBS
)
Zellweger Spectrum Disorders: PEX1 Related (
PEX1
)
Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome (
SLC25A15
)
Zellweger Syndrome (
PEX2
)
ACOGC/ACMG Panel (14)
Alpha-Thalassemia (
HBA1/HBA2
)
Fanconi Anaemia (
FANCC
)
Beta Hemoglobinopathies (Beta-thalassemia and Sickle Cell) (
HBB
)
Fragile-X syndrome (
FMR1
)
Bloom Syndrome (
BLM
)
Gaucher Disease (
GBA
)
Canavan Disease (
ASPA
)
Mucolipidosis IV (
MCOLN1
)
Cystic Fibrosis (
CFTR
)
Niemann-Pick Disease, Type A (
SMPD1
)
Duchenne/Becker Muscular Dystrophy (
DMD
)
Spinal Muscular Atrophy (
SMN1
)
Familial Dysautonomia (
IKBKAP
)
Tay-Sachs Disease (
HEXA
)
Ashkenazi Jewish Panel (39)
3-phosphoglycerate dehydrogenase deficiency (
PHGDH
)
Fukuyama Congenital Muscular Dystrophy (
FKTN
)
Abetalipoproteinaemia (
MTTP
)
Galactosemia (
GALT
)
Alport syndrome (
COL4A3
)
Gaucher Disease (
GBA
)
Arthrogryposis, mental retardataion and seizures (
SLC35A3
)
Glycogen Storage Disease: Type Ia (
G6PC
)
Autosomal Recessive Polycystic Kidney Disease (
PKHD1
)
Joubert Syndrome, TMEM216 Related (
TMEM216
)
Bardet-Biedl syndrome (
BBS2
)
Maple Syrup Urine Disease: Type 1B (
BCKDHB
)
Bloom Syndrome (
BLM
)
Mucolipidosis IV (
MCOLN1
)
Canavan Disease (
ASPA
)
Multiple sulphatase deficiency (
SUMF1
)
Carnitine Palmitoyltransferase II Deficiency (
CPT2
)
Nemaline Myopathy: NEB Related (
NEB
)
Congenital Amegakaryocytic Thrombocytopenia (
MPL
)
Niemann-Pick Disease, Type A (
SMPD1
)
Congenital Disorder of Glycosylation: Type Ia (
PMM2
)
Retinitis pigmentosa, autosomal recessive (
DHDDS
)
Cystic Fibrosis (
CFTR
)
Smith-Lemli-Opitz Syndrome (
DHCR7
)
Dihydrolipoamide Dehydrogenase Deficiency (
DLD
)
Spinal Muscular Atrophy (
SMN1
)
Duchenne/Becker Muscular Dystrophy (
DMD
)
Tay-Sachs Disease (
HEXA
)
Dyskeratosis congenita (
RTEL1
)
Tyrosinemia: Type I (
FAH
)
Ehlers-Danlos syndrome VIIc (
ADAMTS2
)
Usher Syndrome: Type IF (
PCDH15
)
Familial Dysautonomia (
IKBKAP
)
Usher Syndrome: Type IIIA (
CLRN1
)
Familial Hyperinsulinism (
ABCC8
)
Wilson Disease (
ATP7B
)
Fanconi Anaemia (
FANCC
)
Zellweger Syndrome (
PEX2
)
Fragile-X syndrome (
FMR1
)
Basic Panel (6)
Alpha-Thalassemia (
HBA1/HBA2
)
Duchenne/Becker Muscular Dystrophy (
DMD
)
Beta Hemoglobinopathies (Beta-thalassemia and Sickle Cell) (
HBB
)
Fragile-X syndrome (
FMR1
)
Cystic Fibrosis (
CFTR
)
Spinal Muscular Atrophy (
SMN1
)
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