Inherigen

Inherigen

Comprehensivpan-ethnic panel that screens for carrier status of 164 autosomal recessive and X-linked inherited diseaseas well as Fragile X, Spinal Muscular Atrophy and Cystic Fibrosis

Lavender Top Tube

Container/Tube:  Lavender top tube(s) Specimen: Whole Blood 4 mL (3 mL min) Transport Temperature: Room Temperature   Note: Requires Ethnicity (required for interpretation)  Choices are: Northern European (British, German) Southern European (Italian, Greek) French Canadian Ashkenazi Jewish Finnish Other/Mixed Caucasian East Asian (Chinese, Japanese) South Asian (Indian, Pakistani) Southeast Asian (Filipino, Vietnamese) African or African American Hispanic Middle Eastern Native American Pacific Islander Unknown

Room Temperature

Genotyping by Next Generation Sequencing Test includes: 3-Hydroxy-3-Methylglutaryl CoA Lyase Deficiency Glycogen Storage Disease, Type III 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency Holocarboxylase Synthetase Deficiency Abetalipoproteinemia Homocystinuria (CBS Deficiency) Adenosine Deaminase Deficiency Homocystinuria, cblE Type Argininosuccinic Aciduria Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome Ataxia with Vitamin E Deficiency Krabbe Disease Autoimmune Polyglandular Syndrome, Type 1 Lipoprotein Lipase Deficiency Bernard-Soulier Syndrome, Type A1 Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency Bernard-Soulier Syndrome, Type C Lysinuric Protein Intolerance Beta-Thalassemia Maple Syrup Urine Disease, Type 1A Carnitine Palmitoyltransferase Deficiency, Type 1A Maple Syrup Urine Disease, Type 1B Carnitine Palmitoyltransferase Deficiency, Type 2 Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency Cerebrotendinous Xanthomatosis Methylmalonic Aciduria, MMAA-associated (cblA Type) Citrin Deficiency Methylmalonic Aciduria, MUT-associated Congenital Disorder of Glycosylation, Type Ib Nephrotic Syndrome, Congenital Finnish Congenital Myasthenic Syndrome, CHRNE-associated Nephrotic Syndrome, Steroid-Resistant Type 2 Congenital Myasthenic Syndrome, RAPSN-associated Omenn Syndrome Crigler-Najjar Syndrome Pendred Syndrome Cystinosis Phenylketonuria (PKU) Factor XI Deficiency (Hemophilia C) Pompe Disease Familial Hypercholesterolemia, homozygous, LDLR-associated Primary Hyperoxaluria, Type 1 Familial Hypercholesterolemia, LDLRAP1-associated Primary Hyperoxaluria, Type 2 Familial Hyperinsulinism Propionic Acidemia, PCCA-associated Familial Mediterranean Fever Propionic Acidemia, PCCB-associated Familial Neurohypophyseal Diabetes Insipidus, Autoso. Recessive Pyridoxine-Dependent Epilepsy Fanconi Anemia, Type C Short/Branched Chain Acyl-CoA Dehydrogenase (SBCAD) Deficiency Fanconi Anemia, Type G Triple A Syndrome Galactosemia Tyrosinemia, Type I Gaucher Disease Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency Glutaric Acidemia, Type I Vitamin D-dependent Rickets, Type I Glutaric Acidemia, Type IIA Wilson Disease Glutaric Acidemia, Type IIC X-Linked Severe Combined Immunodeficiency Glycogen Storage Disease Type V (McArdle Disease) Glycogen Storage Disease, Type Ia Glycogen Storage Disease, Type Ib

TAT: 11-14 Days

BioReference Laboratories

81443

1659837