Inherigen Carrier Screening
Test Catalog Information
| Test Catalog Synonyms | |
| EPIC Synonyms | |
| Cerner Primary Mnemonic | Inherigen |
| EPIC Display Name | Inherigen Carrier Screening |
| Allscripts (AEHR) Order Name | Inherigen |
| Sunrise Clinical Manager (SCM) Order Name | Inherigen |
| EPIC Inpatient Orderable | Yes |
| EPIC Outpatient Orderable | Yes |
| Cerner Results |
Inherigen Ind for Test1 |
| Clinical Info |
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 |
| Specimen Type | |
| Container |
Lavender Top Tube |
| Collection Instructions |
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 |
| Transport Instructions |
Room Temperature |
| Specimen Stability | |
| Methodology |
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 |
| Days Performed |
TAT: 11-14 Days |
| Performing Laboratory |
BioReference Laboratories |
| CPT |
81443 |
| PDM |
1659837 |
Desired Epic Build Inherigen Carrier Screening
| Cerner Primary Mnemonic: | Inherigen | |||||||||
| PDM | 1659837 | |||||||||
| Informatics - Workgroup | Molecular-send outs | |||||||||
| Synonyms * | ||||||||||
| Display Name * | Inherigen Carrier Screening | |||||||||
| Order Entry Specimen Sources * | ||||||||||
| Order Entry Specimen Types |
Blood
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| Specimen Navigator Specimen Types | ||||||||||
| Specimen Navigator Specimen Sources | ||||||||||
| Specimen Navigator Short Name | ||||||||||
| Ordering info (EPIC SmartText) | 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 | |||||||||
| IP Orderable | Yes | |||||||||
| OP Orderable | Yes | |||||||||
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AOEs * | ||||||||||
| AP AOEs | ||||||||||
| Special History | No | |||||||||
| Build Comments | ||||||||||
| Filter * | genetics | |||||||||
| Procedure Category Change | ||||||||||
Cerner Results
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Actual Epic build
| Procedure Id | 115469 | ||||||||||||
| Pdm | 1659837 | ||||||||||||
| Order Display Name | Inherigen Carrier Screening | ||||||||||||
| Procedure Name | INHERIGEN | ||||||||||||
| Procedure Master Number | LAB11577 | ||||||||||||
| Short Procedure Name | INHERIGEN | ||||||||||||
| Category Code | 15.0 | ||||||||||||
| Category Code Record Name | LAB CYTOGENETICS ORDERABLES | ||||||||||||
| Synonyms | |||||||||||||
| Clinically Active | |||||||||||||
| Orderable | |||||||||||||
| Performable | |||||||||||||
| Filter Genomics | Generic Genomics Procedure | ||||||||||||
| Reference Link Url | https://labs.northwell.edu/epic/test/115469 | ||||||||||||
| Ordering Instructions |
Preferred enzymatic test for detection of arylsulfatase A deficiency
 This test is not suitable for carrier detection. |
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| Default Specimen Type | Blood | ||||||||||||
| Specimen Type Pick List | Blood | ||||||||||||
| Specimen Type List | |||||||||||||
| Op Specimen Type List | |||||||||||||
| Specimen Source Pick List | Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous | ||||||||||||
| Specimen Source Default - Male | |||||||||||||
| Specimen Source Default - Female | |||||||||||||
| Specimen Source List | |||||||||||||
| Op Specimen Source List | |||||||||||||
| Ip Lab Test Components For Report | |||||||||||||
| Op Lab Test Components For Report | |||||||||||||
| Order Questions | ["3048500000"] | ||||||||||||
| Order Questions Record Name | |||||||||||||
| Inpatient Order Questions | ["3048500000"] | ||||||||||||
| Inpatient Order Questions Record Name | |||||||||||||
| Order Specific Question Override | |||||||||||||
| Inpatient Question Override | |||||||||||||
| Location Restrict List Ip | |||||||||||||
| Location Restrict List Ip Record Name | |||||||||||||
| Location Restrict List Include Ip | |||||||||||||
| Location Restrict List Op | |||||||||||||
| Location Restrict List Op Record Name | |||||||||||||
| Location Restrict List Includes Op | |||||||||||||
| Edp Amb Order Specific Questions Record Name | NH IP PATIENT COMPLETED CONSENT | ||||||||||||
| Edp Ip Order Specific Questions Record Name | NH IP PATIENT COMPLETED CONSENT | ||||||||||||
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| Derived Edp Ip Buttons S | |||||||||||||
| Derived Edp Ip Buttons T | |||||||||||||
| Derived Edp Op Buttons S | |||||||||||||
| Derived Edp Op Buttons T | |||||||||||||
| Ip Orderable | 1 | ||||||||||||
| Op Orderable | 1 | ||||||||||||
EPIC OP AOEs
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EPIC IP AOEs
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EPIC Components (results)
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