Familial Mediterranean Fever Mutation Analysis
Test Catalog Information
| Test Catalog Synonyms | |
| EPIC Synonyms | FMV |
| Cerner Primary Mnemonic | Familial Med Fever Mutation |
| EPIC Display Name | Familial Mediterranean Fever Mutation Analysis |
| Allscripts (AEHR) Order Name | Familial Med Fever Mutation |
| Sunrise Clinical Manager (SCM) Order Name | Familial Mediterranean Fever Mutation |
| EPIC Inpatient Orderable | Yes |
| EPIC Outpatient Orderable | Yes |
| Cerner Results |
Familial Med Fever Mutation Analysis (NY |
| Clinical Info |
The test identifies disease-causing mutations in individuals affected with Familial Mediterranean Fever (FMF). It can also be used in identifying carriers in high-risk ethnic groups and in prenatal diagnosis. |
| Specimen Type |
Blood |
| Container |
Lavender Top Tube |
| Collection Instructions |
Container/Tube: Lavender EDTA tube Specimen: 5 mL whole blood EDTA ( 3 mL min) Transport Temperature: Room Temperature Note: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze. For prenatal diagnosis parental results must be available. Contact the laboratory genetic counselor before submission. Alternative Specimen(s) Cultured cells collected from amniotic fluid or CVS in two T-25 Flasks • 20 mL (10 mL minimum) amniotic fluid in leak-proof 15 mL conical tubes • 10-20 mg dissected CVS Collection Instructions Whole blood: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze. For prenatal diagnosis parental results must be available. Contact the laboratory genetic counselor before submission. Amniotic fluid: Normal collection procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not refrigerate or freeze. Amniocyte or CVS culture: Two-Sterile T25 flasks, filled with culture medium. Specimen stability is crucial. Store and ship room temperature. Do not refrigerate or freeze. Dissected chorionic villi (CVS) biopsy: 10-20 mg dissected CVS collected in a sterile tube filled with sterile culture medium. Specimen stability is crucial. Store and ship room temperature immediately. Do not refrigerate or freeze |
| Transport Instructions |
Room Temperature |
| Specimen Stability | |
| Methodology |
Polymerase Chain Reaction (PCR) • Single Nucleotide Primer Extension Set up: Tuesday a.m. Report available: 9 -16 days |
| Days Performed | |
| Performing Laboratory |
Quest Diagnostics' Nichols Institute, Inc. - Chantilly |
| CPT |
81402 |
| PDM |
5900768 |
Desired Epic Build Familial Mediterranean Fever Mutation Analysis
| Cerner Primary Mnemonic: | Familial Med Fever Mutation | ||||||
| PDM | 5900768 | ||||||
| Informatics - Workgroup | Molecular-send outs | ||||||
| Synonyms * | FMV | ||||||
| Display Name * | Familial Mediterranean Fever Mutation Analysis | ||||||
| Order Entry Specimen Sources * | |||||||
| Order Entry Specimen Types |
Blood
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| Ordering info (EPIC SmartText) | The test identifies disease-causing mutations in individuals affected with Familial Mediterranean Fever (FMF). It can also be used in identifying carriers in high-risk ethnic groups and in prenatal diagnosis. | ||||||
| IP Orderable | Yes | ||||||
| OP Orderable | Yes | ||||||
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AOEs * | |||||||
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| Special History | No | ||||||
| Build Comments | |||||||
| Filter * | genetics | ||||||
| Procedure Category Change | |||||||
Cerner Results
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Actual Epic build
| Procedure Id | 115453 | ||||||||||||
| Pdm | 5900768 | ||||||||||||
| Order Display Name | Familial Mediterranean Fever Mutation Analysis | ||||||||||||
| Procedure Name | FAMILIAL MEDITERRANEAN FEVER MUTATION | ||||||||||||
| Procedure Master Number | LAB11569 | ||||||||||||
| Short Procedure Name | FAMILIAL MEDITERRANEAN FEVER MUTATION | ||||||||||||
| Category Code | 15.0 | ||||||||||||
| Category Code Record Name | LAB CYTOGENETICS ORDERABLES | ||||||||||||
| Synonyms | FMV | ||||||||||||
| Clinically Active | |||||||||||||
| Orderable | |||||||||||||
| Performable | |||||||||||||
| Filter Genomics | Generic Genomics Procedure | ||||||||||||
| Reference Link Url | https://labs.northwell.edu/epic/test/115453 | ||||||||||||
| Ordering Instructions | |||||||||||||
| 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 | ||||||||||||
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| Order Questions | ["3048500000"] | ||||||||||||
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| Inpatient Order Questions | ["3048500000"] | ||||||||||||
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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 | ||||||||||||
EPIC OP AOEs
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EPIC Components (results)
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