Fever Syndromes


Test Details
TEST CODE NGS319
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 33
CPT CODE 81479, 81404
PRICE $1995
RECOMMENDED MNG KITS
  • SINGLE Blood Genetic Testing
  • Buccal Swab Genetic Testing

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Clinical Information
Clinical Significance Periodic fever syndromes are a group of autoinflammatory disorders with a heterogeneous genetic cause. Periodic fever syndromes are conditions in which the affected individual experiences recurrent episodes of fever with associated inflammatory symptoms in the absence of infection, allergy, malignancy, immunodeficiency or autoimmune conditions. Familial Mediterranean fever (FMF) is the most common and best known of the hereditary periodic fever syndromes(HPFS). HPFS can be inherited in an autosomal recessive or autosomal dominant manner.
Relevant Diseases
  • Fever Syndromes

Specimen Information
Acceptable Sample Types
  • Muscle
  • Cultured Fibroblasts
  • Whole Blood - EDTA
  • Extracted DNA - Leukocytes
  • Buccal Cells
Sample Preparation: (1) Blood specimens: Draw blood in an EDTA tube. Preferred volume: 4 milliliters (adults and pediatrics), Minimum volume: 2 milliliters; (2) DNA extracted from leukocytes, muscle, or fibroblasts: Preferred quantity: 4 micrograms, Minimum quantity: 3 micrograms (Genomic DNA should be eluted in sterile Dnase/Rnase free water or TE. The A260:A280 ratio should be 1.8-2.0.); (3) 2 T-25 flasks of fibroblasts; (4) 50-75 milligrams muscle snap frozen in liquid nitrogen and maintained at -80┬░Celsius or below. (5) Skin biopsy (Fibroblasts will be cultured from skin specimen for genetic testing): Skin biopsy may be taken from the inner forearm with a sterile skin punch (2-5 millimeters) or at incision site of muscle biopsy. Site is sterilized with alcohol swabs only (other reagents will inhibit cell isolation/growth). Biopsy site may be anaesthetized with 2% lidocaine with epinephrine. Depth of punch is 2mm. Transfer skin biopsy into 15 milliliter conical tube filled with sterile culture media. (6) Buccal cells.
Shipping Condition: MNG SmartKits are available for free shipping of specimens. Please see our website for details. If you are not using a MNG SmartKit: (1) Blood specimens should be shipped in a secure container at room temperature. (2) Extracted DNA should be shipped priority overnight at ambient temperature. (3) T-25 flasks containing fibroblasts should be shipped in an insulated container at room temperature. Flasks should be completely filled with media and cells should be ~90% confluent. Fibroblast samples must be certified free from Mycoplasma. MNG is able to perform this service for a small charge (See TC05). (4) Muscle samples should be shipped frozen in an insulated container with 5-7 lbs dry ice. (5) Buccal cells should be shipped in a secure container at room temperature. (6) Skin Biopsy: Conical containing the skin specimen should be shipped in a secure container with cold pack (DO NOT FREEZE). All samples should be shipped overnight at the proper temperature for receipt by our lab Monday thru Saturday (No Sunday or holiday deliveries accepted).

Genes Assessed
CARD14
CECR1
ELANE
FOXP3
GCH1
HTR1A
IL10RA
IL10RB
IL1RN
IL36RN
LPIN2
MEFV
MVK
NEFL
NLRP12
NLRP3
NOD2
ORAI1
PLCG2
PSMB8
PSTPIP1
RBCK1
SCO2
SH3BP2
SLC19A3
SLC25A19
SLC29A3
TMEM173
TNFRSF11A
TNFRSF1A
TPK1
TRAF3
TRNT1

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