DISORDERS INCLUDED ON INHERIGEN PLUS PANEL
#
A
- Abetalipoproteinemia
- Achromatopsia, CNGB3-associated
- Adenosine deaminase deficiency
- Agenesis of the Corpus Callosum with Peripheral Neuropathy (Andermann Syndrome)
- Alport Syndrome, Autosomal Recessive
- Antley-Bixler syndrome
- Argininosuccinic aciduria
- Arthrogryposis, Mental Retardation, & seizures
- Aspartylglycosaminuria
- Ataxia neuropathy spectrum (ANS)
- Ataxia with vitamin E deficiency
- Ataxia-telangiectasia
- Autoimmune polyglandular syndrome, Type 1
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
B
- Bardet-Biedl syndrome, BBS1-associated
- Bardet-Biedl syndrome, BBS10-associated
- Bardet-Biedl syndrome, BBS12-associated
- Bardet-Biedl Syndrome, BBS2- Associated
- Bernard-Soulier syndrome (BSS), Type A1
- Bernard-Soulier syndrome (BSS), Type CBernard-Soulier syndrome (BSS), Type CBernard-Soulier syndrome (BSS), Type C
- Beta-thalassemia
- Bilateral frontoparietal polymicrogyria
- Bloom syndrome
C
- Canavan disease
- Carnitine palmitoyltransferase deficiency Type 2
- Carnitine palmitoyltransferase deficiency, Type 1A
- Carpenter syndrome
- Cerebrotendinous xanthomatosis (CTX)
- Charcot-Marie-Tooth disease, Type 4D
- Choroideremia
- Citrin deficiency
- Coenzyme Q10 Deficiency, Primary 7
- Cohen syndrome
- Congenital amegakaryocytic thrombocytopenia (CAMT)
- Congenital disorder of glycosylation, Type IA
- Congenital disorder of glycosylation, Type IB
- Congenital myasthenic syndrome, CHRNE-associated
- Congenital myasthenic syndrome, RAPSN-associated
- CRB1-associated retinal dystrophies
- Crigler-Najjar syndrome
- Cystic Fibrosis
- Cystinosis
D
E
F
- Factor XI deficiency (Hemophilia C)
- Familial dysautonomia
- Familial hypercholesterolemia, LDLR-associated
- Familial hypercholesterolemia, LDLRAP1-associated
- Familial hyperinsulinism
- Familial Mediterranean fever
- Familial neurohypophyseal diabetes insipidus (FNDI), autosomal recessive
- Fanconi anemia, Type C
- Fanconi anemia, Type G
- Fragile X syndrome
- Fructose Intolerance
G
- Galactosemia
- Gaucher disease
- Glutaric acidemia, Type I (GA I)
- Glutaric acidemia, Type IIA
- Glutaric acidemia, Type IIC
- Glycogen storage disease, Type IA
- Glycogen storage disease, Type IB
- Glycogen storage disease, Type II/Pompe disease
- Glycogen storage disease, Type III
- Glycogen storage disease, Type V (McArdle Disease)
- GRACILE syndrome
H
I
J
K
L
- Lamellar ichthyosis, Type 1
- Leber congenital amaurosis CEP290 Type
- Leber congenital amaurosis RDH12 Type
- Leigh syndrome, French-Canadian Type (LSFC)
- Leukoencephalopathy with vanishing white matter
- Limb-girdle muscular dystrophy (LGMD) Type 2A
- Limb-girdle muscular dystrophy (LGMD) Type 2C
- Limb-girdle muscular dystrophy (LGMD) Type 2D
- Limb-girdle muscular dystrophy (LGMD) Type 2E
- Lipoprotein lipase deficiency
- Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase (LCHAD) Deficiency
- Lysinuric protein intolerance
M
- Maple syrup urine disease (MSUD), Type 1B
- Maple syrup urine disease, Type 1A
- Meckel-Gruber syndrome, Type 1
- Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency
- Megalencephalic Leukoencephalopathy with subcortical cysts
- Metachromatic leukodystrophy (MLD)
- Methylmalonic aciduria and homocystinuria, cobalamin C (cblC) Type
- Methylmalonic aciduria, MMAA-associated (cblA Type)
- Methylmalonic aciduria, MUT-associated
- Mitochondrial Complex I Deficiency
- Mucolipidosis, Type IV
- Multiple Sulfatase Deficiency
N
- Navajo neurohepatopathy (NNH)
- Nemaline myopathy 2
- Nephrotic syndrome, Congenital Finnish
- Neuronal Ceroid Lipofuscinosis, CLN3 associated
- Neuronal ceroid lipofuscinosis, CLN5-associated
- Neuronal ceroid lipofuscinosis, CLN6-associated
- Neuronal ceroid lipofuscinosis, CLN8-associated
- Neuronal ceroid lipofuscinosis, PPT1-associated
- Neuronal ceroid lipofuscinosis, TPP1-associated
- Niemann-Pick disease Type A/B
- Niemann-Pick disease, Type C
- Nijmegen breakage syndrome
O
P
- Pendred syndrome
- Peroxisome Biogenesis Disorder 5A (Zellweger)
- Phenylketonuria (PKU)
- Phosphoglycerate Dehydrogenase Deficiency
- Polycystic kidney disease, autosomal recessive (ARPKD)
- Primary ciliary dyskinesia, DNAH5-associated
- Primary ciliary dyskinesia, DNAI1-associated
- Primary congenital glaucoma
- Primary hyperoxaluria, Type 1
- Primary hyperoxaluria, Type 2
- Progressive pseudorheumatoid dysplasia (PPD)
- Prolidase deficiency
- Propionic acidemia, PCCA-associated
- Propionic acidemia, PCCB-associated
- Pseudoxanthoma elasticum
- Pycnodysostosis
- Pyridoxine-dependent epilepsy
Q
R
S
- Salla disease
- Sandhoff disease
- Sanfilippo syndrome, Type A
- Sanfilippo syndrome, Type B
- Sanfilippo syndrome, Type C
- Segawa syndrome
- Severe combined immunodeficiency, Athabaskan-type (SCIDA)
- Short/Branched chain Acyl-CoA dehydrogenase (SBCAD) deficiency
- Sialidosis, Type 2
- Sjogren-Larsson syndrome (SLS)
- Smith-Lemli-Opitz syndrome
- Spinal muscular atrophy
- Stargardt disease, Type 1
- Stuve-Wiedemann syndrome
T
U
V
W
X
Y
Z
Headquarters
481 Edward H. Ross Dr. Elmwood Park, NJ 07407-0621
GenPath Urology & Oncology (800) 627-1479
GenPath Women's Health (800) 633-4522
Privacy
Stay Connected
If you have questions or comments, CONTACT US
Join our newsletter to get the latest updates, SIGN UP HERE