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InheriGen Plus Disease List
InheriGen Plus Pan-Ethnic Carrier Screen Disease List
DISEASE NAME
CATEGORY LEGEND
CATEGORY
DISEASE NAME
Shortened Life Expectancy
Ceroid Lipofuscinosis, Neuronal, 8
Homocystinuria, cblE Type
Cognitive Delay
Charcot-Marie-Tooth Disease, Type 4D (CMT4D)
InheriGenTx Panel Component
Choroideremia (CHM)
Hyperornithinemia-Hyperammonemia-Homocitrullinuria
(HHH) Syndrome
American College of Medical Genetics (ACMG) Guidelines
Ciliary Dyskinesia, Primary 1
Hypophosphatasia
American College of Obstetrics & Gynecology (ACOG) Guidelines
Ciliary Dyskinesia, Primary 3
Inclusion Body Myopathy 2
Citrin Deficiency
Joubert Syndrome 2
Coenzyme Q10 Deficiency, Primary, 7
Junctional Epidermolysis Bullosa, LAMA3-Associated
Cohen Syndrome
Junctional Epidermolysis Bullosa, LAMB3-Associated
6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency
Congenital Amegakaryocytic Thrombocytopenia
(CAMT)
Junctional Epidermolysis Bullosa, LAMC2-Associated
Abetalipoproteinemia
Congenital Disorder of Glycosylation, Type IA
Achalasia-Addisonianism-Alacrima Syndrome
Congenital Disorder of Glycosylation, Type IB
Achromatopsia, CNGB3 Associated
Congenital Myasthenic Syndrome, CHRNE-Associated
DISEASE NAME
3-Hydroxy-3-Methylglutaryl CoA Lyase Deficiency
Adenosine Deaminase Deficiency
Adrenal Hyperplasia, Congenital, due to
17-Alpha-Hydroxylase Deficiency
Agenesis of the Corpus Callosum with Peripheral
Neuropathy (Andermann Syndrome)
Albinism, Oculocutaneous, Type I
Albinism, Oculocutaneous, Type II
CATEGORY
Krabbe Disease
Lamellar Ichthyosis, Type 1
Leber Congenital Amaurosis, CEP290-Associated
Leber Congenital Amaurosis, RDH12-Associated
Congenital Myasthenic Syndrome, RAPSN-Associated
Leigh Syndrome, French Canadian Type
CRB1-Associated Retinal Dystrophies
Leukoencephalopathy with Vanishing White Matter
Crigler-Najjar Syndrome
Limb-Girdle Muscular Dystrophy, Type 2A
Cystic Fibrosis (CF) Expanded
Limb-Girdle Muscular Dystrophy, Type 2C
Cystinosis, Nephropathic
Limb-Girdle Muscular Dystrophy, Type 2D
Albinism, Oculocutaneous, Type IV
Deafness, Autosomal Recessive 1A (GJB2)
Limb-Girdle Muscular Dystrophy, Type 2E
Alport Syndrome, Autosomal Recessive
Antley-Bixler Syndrome (ABS) (Cytochrome P450
Oxidoreductase Deficiency)
Dihydrolipoamide Dehydrogenase Deficiency
CATEGORY
DISEASE NAME
Phenylketonuria (PKU)
Phosphoglycerate Dehydrogenase Deficiency
Polycystic Kidney Disease, Autosomal Recessive
(ARPKD)
Pompe Disease
Primary Hyperoxaluria, Type I
Primary Hyperoxaluria, Type II
Progressive Pseudorheumatoid Dysplasia (PPD)
Prolidase Deficiency
Propionic Acidemia, PCCA-Associated
Propionic Acidemia, PCCB-Associated
Pseudoxanthoma Elasticum
Pycnodysostosis
Pyridoxine-Dependent Epilepsy
Pyruvate Carboxylase Deficiency
Retinal Dystrophies, RLBP1-Associated
Retinitis Pigmentosa 25
Retinitis Pigmentosa 59
Retinoschisis 1, X-Linked, Juvenile
Rhizomelic Chondrodysplasia Punctata, Type 1
Ehlers-Danlos Syndrome, Type VIIC
Lipoprotein Lipase Deficiency
Long-Chain 3-Hydroxyacyl-Coenzyme A
Dehydrogenase (LCHAD) Deficiency
Lysinuric Protein Intolerance
Arthrogryposis, Mental Retardation and Seizures
Ethylmalonic Encephalopathy
Maple Syrup Urine Disease, Type 1A
Sanfilippo, Type B
Aspartylglucosaminuria (AGU)
Factor XI Deficiency (Hemophilia C)
Maple Syrup Urine Disease, Type 1B
Sanfilippo, Type C
Ataxia Neuropathy Spectrum (ANS)
Familial Dysautonomia
Familial Hypercholesterolemia, Homozygous,
LDLR-Associated
Familial Hypercholesterolemia, LDLRAP1 Associated
Meckel-Gruber Syndrome, Type 1
Segawa Syndrome
Medium-Chain Acyl-CoA Dehydrogenase (MCAD)
Deficiency
Megalencephalic Leukoencephalopathy with
Subcortical Cysts
Short/Branched Chain Acyl-CoA Dehydrogenase
(SBCAD) Deficiency
Familial Hyperinsulinism
Argininosuccinic Aciduria
Ataxia with Vitamin E Deficiency (AVED)
Ataxia-Telangiectasia
Autoimmune Polyglandular Syndrome, Type 1
Autosomal Recessive Spastic Ataxia of
Charlevoix-Saguenay (ARSACS)
Dihydropyrimidine Dehydrogenase Deficiency
Dyskeratosis Congenita, Autosomal Recessive 5
Salla Disease
Sandhoff Disease
Sanfilippo, Type A
Sialidosis, Type II
Metachromatic Leukodystrophy (MLD)
Sjogren-Larsson Syndrome (SLS)
Methylmalonic Aciduria and Homocystinuria,
Cobalamin C (cblC3)
Smith-Lemli-Opitz Syndrome
Bardet-Biedl Syndrome 2
Familial Mediterranean Fever
Familial Neurohypophyseal Diabetes Insipidus (FNDI),
Autosomal Recessive
Bardet-Biedl Syndrome 10
Fanconi Anemia, Type C
Methylmalonic Aciduria, MUT-Associated
Spinal Muscular Atrophy (SMA)
Bardet-Biedl Syndrome 12
Fanconi Anemia, Type G
Mitochondrial Complex I Deficiency
Bernard-Soulier Syndrome, Type A1
Fragile X
Mitochondrial DNA Depletion Syndrome 6
Bernard-Soulier Syndrome, Type C
Fructose Intolerance, Hereditary
Mucolipidosis, Type IV
Stargardt Disease, Type 1
Stuve-Wiedemann Syndrome (Schwartz-Jampel
Syndrome Type 2)
Sulfate Transporter-Related Osteochondrodysplasia
Beta Hemoglobinopathies
Galactosemia
Mucopolysaccharidosis Type I (MPS I)
Tay-Sachs Disease
Bilateral Frontoparietal Polymicrogyria (BFPP)
Gaucher Disease
Multiple Sulfatase Deficiency
Tyrosinemia, Type I
Bloom Syndrome
Glaucoma 3 Primary Congenital
Nemaline Myopathy 2
Usher Syndrome, Type 1B
Bruck Syndrome-1
Glutaric Acidemia, Type I
Nephrotic Syndrome, Congenital Finnish
Usher Syndrome, Type 1C
Canavan Disease
Glutaric Acidemia, Type IIA
Nephrotic Syndrome, Steroid-Resistant Type 2
Usher Syndrome, Type 1D
Carnitine Palmitoyltransferase Deficiency, Type 1A
Glutaric Acidemia, Type IIC
Niemann-Pick Disease, Type A/B
Usher Syndrome, Type 1F
Carnitine Palmitoyltransferase Deficiency, Type 2
Glycogen Storage Disease, Type IA (GSDIA)
Niemann-Pick Disease, Type C
Usher Syndrome, Type 2A
Carpenter Syndrome
Glycogen Storage Disease, Type IB (GSDIB)
Nijmegen Breakage Syndrome
Cerebrotendinous Xanthomatosis (CTX)
Glycogen Storage Disease, Type III (GSDIII)
Ceroid Lipofuscinosis, Neuronal, 1
Glycogen Storage Disease, Type V (GSDV)
Ceroid Lipofuscinosis, Neuronal, 2
GRACILE Syndrome
Hermansky-Pudlak Syndrome 3
Odonto-Onycho-Dermal Dysplasia/
Schopf-Schulz-Passarge Syndrome
Omenn Syndrome
Usher Syndrome, Type 3
Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD)
Deficiency
Vitamin D-dependent Rickets, Type I
Osteopetrosis, Autosomal Recessive 1
Walker-Warburg Syndrome
Bardet-Biedl Syndrome 1
Ceroid Lipofuscinosis, Neuronal, 3
Ceroid Lipofuscinosis, Neuronal, 5
Ceroid Lipofuscinosis, Neuronal, 6
Holocarboxylase Synthetase Deficiency
Homocystinuria (CBS Deficiency)
Methylmalonic Aciduria, MMAA-Associated (cblA Type)
Spastic Tetraplegia, Thin Corpus Callosum &
Progressive Microcephaly
Pendred Syndrome
Werner Syndrome
Peroxisome Biogenesis Disorder 1A (Zellweger)
Wilson Disease
Peroxisome Biogenesis Disorder 5A (Zellweger)
X-Linked Severe Combined Immunodeficiency
CATEGORY