Familial Mediterranean Fever Mutation Analysis Build info

Synonyms

• FAMILIAL MEDITERRANEAN FEVER MUTATION
• FMV
• LAB11569

Short Name

FAMILIAL MEDITERRANEAN FEVER MUTATION

Procedure Master Number

LAB11569

Procedure ID

115453

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 Sources

Specimen Types

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

Only Orderable at Locations:

Results