For symptoms involving: Hearing, Nervous System, Vision
Number of Alleles Tested: 30
|
|
Condition
|
Gene(s)
|
Alpha Mannosidosis
|
MAN2B1
|
Brachycephaly and Craniofacial Defects
|
ALX1
|
Congenital Glaucoma
|
LTBP2
|
Dihydropyrimidinase (DHP)
|
CPYS
|
Erythrocyte Pyruvate Kinase Deficiency (PK Deficiency)
|
PKLR
|
Glycogen Storage Disease Type IV (GSD IV)
|
GBE
|
GM1 Gangliosidosis 1-5
|
GLB1, GM2A, HEXB
|
Hemophilia B 1, 2
|
F9
|
Hypokalemic Periodic Paralysis
|
WNK4
|
Leber Congenital Amaurosis (or Retinal Pigment Epithelial Dystrophy)
|
AIPL
|
Mucolipidosis II
|
GNPTAB
|
Mucopolysaccharidosis VII 1, 2
|
GUSB
|
Neuronal Ceroid Lipofuscinosis Type 7 (CLN7)
|
MFSD8
|
Niemann-Pick Disease Type C1 (NPC1) 1, 2
|
NPC1
|
Niemann-Pick Disease Type C2 (NPC2)
|
NPC2
|
Retinal Degeneration II
|
CEP290
|
Rickets Type 1B
|
CYP2R1
|
Rickets Type I 1, 2
|
CYP27B1, CYP27B2
|
Rod-Cone Dysplasia
|
CRX
|
Spasticity (Congenital Myasthenic Syndrome, CMS)
|
COLQ
|
Spinal Muscular Atrophy
|
LIX1
|
For symptoms involving: Development, Musculoskeletal System, Skin and Hair
Number of Alleles Tested: 45
|
|
Condition
|
Gene(s)
|
Acute Intermittent Porphyria (AIP) 1-6
|
HMBS
|
Alpha Mannosidosis
|
MAN2B1
|
Brachycephaly and Craniofacial Defects
|
ALX1
|
Chediak-Higashi Syndrome
|
LYST
|
Congenital Hypothyroidism
|
TPO
|
Dihydropyrimidinase (DHP)
|
CPYS
|
Ehlers-Danlos Syndrome, Classic Type I (EDS)
|
COL5A1
|
Erythrocyte Pyruvate Kinase Deficiency (PK Deficiency)
|
PKLR
|
Erythropoietic Porphyria
|
UROS
|
Fibrodysplasia Ossificans
|
ACVR1
|
Glycogen Storage Disease Type IV (GSD IV)
|
GBE
|
GM1 Gangliosidosis 1-5
|
GLB1, GM2A, HEXB
|
Hairless with shortened lifespan
|
FOXN1
|
Hemophilia B 1, 2
|
F9
|
Hyperlipoproteinaemia
|
LPL
|
Hypokalemic Periodic Paralysis
|
WNK4
|
Inflammatory Linear Verrucous Epidermal Nevus (ILVEN)
|
NSDHL
|
Mucolipidosis Type II
|
GNPTAB
|
Mucopolysaccharidosis Type I
|
IDUA
|
Mucopolysaccharidosis Type VI
|
ARSB
|
Mucopolysaccharidosis VII 1, 2
|
GUSB
|
Myotonia Congenita
|
CLCN1
|
Neuronal Ceroid Lipofuscinosis Type 7 (CLN7)
|
MFSD8
|
Niemann-Pick Disease Type C1 (NPC1) 1, 2
|
NPC1
|
Niemann-Pick Disease Type C2 (NPC2)
|
NPC2
|
Osteochondrodysplasia
|
TRPV4
|
Rickets Type I 1, 2
|
CYP27B1, CYP27B2
|
Rickets Type IB
|
CYP2R1
|
Spasticity (Congenital Myasthenic Syndrome, CMS)
|
COLQ
|
Spinal Muscular Atrophy
|
LIX1
|
Testicular Hypoplasia and Persistent Primary Dentition
|
TAC3
|
For symptoms involving: Blood, Endocrine System, Gastrointestinal Tract, Heart, Immune System, Kidneys, Liver, Reproduction
Number of Alleles Tested: 40
|
|
Condition
|
Gene(s)
|
Acute Intermittent Porphyria (AIP) 1-6
|
HMBS
|
Autoimmune Lymphoproliferative Syndrome (ALPS)
|
FASL
|
Chediak-Higashi Syndrome
|
LYST
|
Congenital Hypothyroidism
|
TPO
|
Cystinuria Type IA
|
SLC3A1
|
Cystinuria Type IB 1-4
|
SLC7A9
|
Cystinuria Type IIB
|
SLC7A9
|
Dihydropyrimidinase (DHP)
|
CPYS
|
Erythrocyte Pyruvate Kinase Deficiency (PK Deficiency)
|
PKLR
|
Erythropoietic Porphyria
|
UROS
|
Factor XII Deficiency 1, 2
|
F12
|
Glycogen Storage Disease Type IV (GSD IV)
|
GBE
|
Hemophilia B 1, 2
|
F9
|
Hepatic Copper Accumulation
|
ATP7B
|
Hyperlipoproteinaemia
|
LPL
|
Hyperoxaluria Type II
|
GRHPR
|
Hypertrophic Cardiomyopathy (HCM) 1-3
|
MYBPC3, MYH7
|
Leukocyte Adhesion Deficiency Type I
|
ITGB2
|
Methemoglobinemia 1, 2
|
CYB5R3
|
Mucolipidosis II
|
GNPTAB
|
Mucopolysaccharidosis Type I
|
IDUA
|
Niemann-Pick Disease Type C1 (NPC1) 1, 2
|
NPC1
|
Niemann-Pick Disease Type C2 (NPC2)
|
NPC2
|
Polycystic Kidney Disease (PKD)
|
PKD1
|
Resistance to FIV 1
|
APOBEC3C
|
Testicular Hypoplasia and Persistent Primary Dentition 1
|
TAC3
|