Collection Instructions
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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
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Methodology
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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
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