MTHFR Mutation Molecular Detection
Test Catalog Information
| Test Catalog Synonyms | |
| EPIC Synonyms |
Hyperhomocysteinemia, MTHFR DNA assay Methylenetetrahydrofolate reductase (MTHFR) |
| Cerner Primary Mnemonic | HLX MTHFR CASE |
| EPIC Display Name | MTHFR Mutation Molecular Detection |
| Allscripts (AEHR) Order Name | HLX MTHFR Case |
| Sunrise Clinical Manager (SCM) Order Name | Molecular Genetics - MTHFR Gene Case |
| EPIC Inpatient Orderable | Yes |
| EPIC Outpatient Orderable | Yes |
| Cerner Results |
DNA ISO RES MTHFR MTHFR ITRP Molecular Genetic Study |
| Clinical Info |
Reduced levels of MTHFR activity led to elevated plasma concentrations of homocysteine, a condition referred to as hyperhomocysteinemia, a recognized risk factor for thrombophilia. Elevated plasma homocysteine has also been associated with an increased risk of cardiovascular disease and neural tube defects in fetuses of pregnant women. |
| Specimen Type |
Blood |
| Container |
Lavender Top Tube |
| Collection Instructions |
Container/Tube: Lavender-top (EDTA) tube Specimen: 1-3 mL of peripheral blood Transport Temperature: Room Temperature Collection Instructions: Note: Pertinent medical information including patient’s age, suspected diagnosis and a signed “Patient Consent Form” are required on request form for processing. |
| Transport Instructions |
Room Temperature |
| Specimen Stability |
Specimens are stable for a week refrigerated. |
| Methodology |
Real Time PCR |
| Days Performed |
Monday through Friday TAT: 8 Calendar days |
| Performing Laboratory |
Northwell Health Laboratories |
| CPT |
81291 |
| PDM |
228467 |
Desired Epic Build MTHFR Mutation Molecular Detection
| Cerner Primary Mnemonic: | HLX MTHFR CASE | |||||||||||||||
| PDM | 5160200 | |||||||||||||||
| Informatics - Workgroup | Molpath inhouse | |||||||||||||||
| Synonyms * | Hyperhomocysteinemia, MTHFR DNA assay Methylenetetrahydrofolate reductase (MTHFR) | |||||||||||||||
| Display Name * | MTHFR Mutation Molecular Detection | |||||||||||||||
| Order Entry Specimen Sources * | ||||||||||||||||
| Order Entry Specimen Types |
Blood
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| Specimen Navigator Short Name | ||||||||||||||||
| Ordering info (EPIC SmartText) | Reduced levels of MTHFR activity led to elevated plasma concentrations of homocysteine, a condition referred to as hyperhomocysteinemia, a recognized risk factor for thrombophilia. Elevated plasma homocysteine has also been associated with an increased risk of cardiovascular disease and neural tube defects in fetuses of pregnant women. | |||||||||||||||
| IP Orderable | Yes | |||||||||||||||
| OP Orderable | Yes | |||||||||||||||
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AOEs * | ||||||||||||||||
| AP AOEs | ||||||||||||||||
| Special History | No | |||||||||||||||
| Build Comments | DUPLICATE | |||||||||||||||
| Filter * | genetics | |||||||||||||||
| Procedure Category Change | ||||||||||||||||
Cerner Results
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Current Actual EPIC Build as of 10/28/2024
| Procedure Id | 115247 | ||||||||||||||||||||||||
| Pdm | 5160200 | ||||||||||||||||||||||||
| Order Display Name | MTHFR Mutation Molecular Detection | ||||||||||||||||||||||||
| Procedure Name | MOLECULAR GENETICS - MTHFR GENE | ||||||||||||||||||||||||
| Procedure Master Number | LAB11455 | ||||||||||||||||||||||||
| Short Procedure Name | MOLECULAR GENETICS - MTHFR GENE | ||||||||||||||||||||||||
| Category Code | 21.0 | ||||||||||||||||||||||||
| Category Code Record Name | LAB MOLECULAR DIAGNOSTICS ORDERABLES | ||||||||||||||||||||||||
| Synonyms | HYPERHOMOCYSTEINEMIA, MTHFR DNA ASSAY METHYLENETETRAHYDROFOLATE REDUCTASE (MTHFR) | ||||||||||||||||||||||||
| Clinically Active | Yes | ||||||||||||||||||||||||
| Orderable | Yes | ||||||||||||||||||||||||
| Performable | Yes | ||||||||||||||||||||||||
| Filter Genomics | Generic Genomics Procedure | ||||||||||||||||||||||||
| Reference Link Url | https://labs.northwell.edu/epic/test/115247 | ||||||||||||||||||||||||
| Ordering Instructions |
Reduced levels of MTHFR activity led to elevated plasma concentrations of homocysteine, a condition referred to as hyperhomocysteinemia, a recognized risk factor for thrombophilia. Elevated plasma homocysteine has also been a
ssociated with an increased risk of cardiovascular disease and neural tube defects in fetuses of pregnant women.
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| Default Specimen Type | Blood | ||||||||||||||||||||||||
| Specimen Type Pick List | Blood | ||||||||||||||||||||||||
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| Specimen Source Pick List | Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous | ||||||||||||||||||||||||
| Specimen Source Default - Male | Blood, Venous | ||||||||||||||||||||||||
| Specimen Source Default - Female | Blood, Venous | ||||||||||||||||||||||||
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| Ip Lab Test Components For Report | HLXMTHFR | ||||||||||||||||||||||||
| Op Lab Test Components For Report | HLXMTHFR | ||||||||||||||||||||||||
| Order Questions | ["3045300170", "3045300171", "3045300173"] | ||||||||||||||||||||||||
| Order Questions Record Name | NH IP HOME COLLECT DATE NH IP HOME COLLECT DAYS NH IP HOME COLLECT MEDICALLY NECESSARY | ||||||||||||||||||||||||
| Inpatient Order Questions | ["3048500000"] | ||||||||||||||||||||||||
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| Order Specific Question Override | Yes | ||||||||||||||||||||||||
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| 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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| Ip Orderable | 1 | ||||||||||||||||||||||||
| Op Orderable | 1 | ||||||||||||||||||||||||
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