Fever Syndromes


Test Details
TEST CODE NGS319
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 168
CPT CODE 81479, 81404
PRICE $1995
RECOMMENDED MNG KITS
  • SINGLE Blood Genetic Testing
  • Buccal Swab Genetic Testing

Order Kit


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
ACP5
ADAMTS13
AICDA
ALMS1
ALPL
ANTXR1
AQP2
ATP6AP1
AVPR2
BCL10
BLNK
C21orf59
CARD11
CARD14
CCDC103
CCDC114
CCDC151
CCDC65
CCNO
CD27
CD3D
CD3E
CD3G
CD40
CD40LG
CD55
CD79A
CD79B
CD81
CD8A
CECR1
CFH
CFHR1
CFHR3
CFI
CFTR
CHAMP1
CIITA
COL13A1
CORO1A
CR2
CRLF1
CTLA4
CYP21A2
DCLRE1C
DLL3
DNAAF3
DNAH11
DNAJB13
DRC1
DSG1
DYX1C1
EGFR
ELANE
EPG5
ERF
FCGR2A
FCGR3A
FMO3
FOXP3
GAS8
GCH1
GMNN
HAVCR1
HEATR2
HLA-DRB1
HPS6
HTR1A
HYDIN
IGHM
IGKC
IGLL1
IKBKB
IKZF1
IL10RA
IL10RB
IL17RA
IL1RN
IL21
IL21R
IL2RA
IL36RN
IL4R
INPPL1
IRF7
ITGA3
JAGN1
JAK3
KRT8
LAMTOR2
LAT
LCK
LEP
LPIN2
LRBA
LRRC6
MCM4
MEFV
MS4A1
MVK
NEFL
NFKB1
NFKB2
NFKBIA
NKX2-1
NLRC4
NLRP12
NLRP3
NME1
NME8
NOD2
ORAI1
PHF11
PIH1D3
PIK3CD
PIK3R1
PLA2G7
PLCG2
PLG
PNP
POLE
PRKDC
PRSS1
PSMB8
PSTPIP1
RAB3GAP2
RBCK1
RELB
RFX5
RFXANK
RFXAP
RSPH1
RSPH3
SCNN1A
SCNN1B
SCNN1G
SCO2
SCYL1
SDCCAG8
SELP
SH3BP2
SLC19A3
SLC25A19
SLC29A3
SPAG1
SPINK1
SPINK5
STAT1
STAT2
STAT3
STX11
TAP2
TAPBP
TMEM173
TNFRSF11A
TNFRSF1A
TPK1
TRAF3
TRAIP
TRNT1
TRPS1
TTC25
TYK2
USB1
WAS
XIAP
ZBTB24
ZMYND10

Back to Test Directory