Synonyms
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Allscripts (AEHR) Order Name
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Familial Med Fever Mutation
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Sunrise Clinical Manager (SCM) Order Name
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Familial Mediterranean Fever Mutation
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Clinical Info
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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.
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Specimen Type
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Blood
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Container
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Lavender Top Tube
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Collection Instructions
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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
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Transport Instructions
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Room Temperature
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Specimen Stability
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Methodology
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Polymerase Chain Reaction (PCR) • Single Nucleotide Primer Extension
Set up: Tuesday a.m.
Report available: 9 -16 days
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Days Performed
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Performing Laboratory
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Quest Diagnostics' Nichols Institute, Inc. - Chantilly
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CPT
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81402
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PDM
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5900768
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Result Interpretation
See Reference Report
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics.
It has not been cleared or approved by the U.S. Food and Drug Administration.
This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
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Forms
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