Fragile X Mutation (FMR1) Molecular Detection
Test Catalog Information
| Test Catalog Synonyms | |
| EPIC Synonyms | FRX DNA |
| Cerner Primary Mnemonic | HLX Fragile X CASE |
| EPIC Display Name | Fragile X Mutation (FMR1) Molecular Detection |
| Allscripts (AEHR) Order Name | Fragile X DNA Probe |
| Sunrise Clinical Manager (SCM) Order Name | Not Orderable |
| EPIC Inpatient Orderable | Yes |
| EPIC Outpatient Orderable | Yes |
| Cerner Results | |
| Clinical Info |
Fragile X syndrome is the most common inherited cause of mental retardation. The syndrome occurs in approximately 1 in 3600 males and 1 in 4000 to 6000 females. People with Fragile X can present macroorchidism and distinct facial features, including long face, large ears, and prominent jaw. |
| 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 Additional Information: A signed Patient Consent Form is required. |
| Transport Instructions |
Room Temperature |
| Specimen Stability |
Specimens are stable for a week refrigerated. |
| Methodology |
Polymerase Chain Reaction (PCR) followed by Capillary Electrophoresis |
| Days Performed |
Monday through Friday TAT: 8 Calendar days |
| Performing Laboratory |
Northwell Health Laboratories |
| CPT |
81243 |
| PDM |
5160403 |
Desired Epic Build Fragile X Mutation (FMR1) Molecular Detection
| Cerner Primary Mnemonic: | HLX Fragile X CASE |
| PDM | 5160403 |
| Informatics - Workgroup | Molpath inhouse |
| Synonyms * | FRX DNA |
| Display Name * | Fragile X Mutation (FMR1) Molecular Detection |
| 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) | Fragile X syndrome is the most common inherited cause of mental retardation. The syndrome occurs in approximately 1 in 3600 males and 1 in 4000 to 6000 females. People with Fragile X can present macroorchidism and distinct facial features, including long face, large ears, and prominent jaw. |
| IP Orderable | Yes |
| OP Orderable | Yes |
|
AOEs * | |
| AP AOEs | |
| Special History | No |
| Build Comments | |
| Filter * | genetics |
| Procedure Category Change | |
| Cerner Results | |
Current Actual EPIC Build as of 10/28/2024
| Procedure Id | 115609 | ||||||||||||||||||||||||
| Pdm | 5160403 | ||||||||||||||||||||||||
| Order Display Name | Fragile X Mutation (FMR1) Molecular Detection | ||||||||||||||||||||||||
| Procedure Name | FRAGILE X CASE | ||||||||||||||||||||||||
| Procedure Master Number | LAB11647 | ||||||||||||||||||||||||
| Short Procedure Name | FRAGILE X CASE | ||||||||||||||||||||||||
| Category Code | 21.0 | ||||||||||||||||||||||||
| Category Code Record Name | LAB MOLECULAR DIAGNOSTICS ORDERABLES | ||||||||||||||||||||||||
| Synonyms | FRX DNA | ||||||||||||||||||||||||
| Clinically Active | Yes | ||||||||||||||||||||||||
| Orderable | Yes | ||||||||||||||||||||||||
| Performable | Yes | ||||||||||||||||||||||||
| Filter Genomics | Generic Genomics Procedure | ||||||||||||||||||||||||
| Reference Link Url | https://labs.northwell.edu/epic/test/115609 | ||||||||||||||||||||||||
| Ordering Instructions | Fragile X syndrome is the most common inherited cause of mental retardation. The syndrome occurs in approximately 1 in 3600 males and 1 in 4000 to 6000 females. People with Fragile X can present macroorchidism and distinct fa cial features, including long face, large ears, and prominent jaw. | ||||||||||||||||||||||||
| 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 | HLXFRAGFL | ||||||||||||||||||||||||
| Op Lab Test Components For Report | HLXFRAGFL | ||||||||||||||||||||||||
| 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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