Muckle-Wells Syndrome

MWS, FCAS, and CINCA/NOMID: These systemic inflammatory diseases are autosomal dominant disorders caused by mutations in the NLRP3 (CIAS1) gene. They are characterized by intermittent episodes of fever, urticarial rash, arthralgias, and abdominal pain. In FCAS, the symptoms are precipitated by exposure to cold. In both MWS and CINCA/NOMID, progressive sensorineural hearing loss is common, while chronic meningitis, uveitis, optic disc edema, developmental delay and a characteristic deforming arthropathy (bony overgrowth) is observed only in CINCA/NOMID. Renal and systemic amyloidosis is a major cause of morbidity in MWS and FCAS. Treatment with anakinra typically results in improvement of symptoms.

Tests Available

Forms and Documents

Test Details

NLRP3 (CIAS1)
  • Confirmation of a clinical diagnosis
  • To assist in determining the most appropriate therapy, as the response to specific therapeutic modalities depends on the diagnosis
  • Recurrence risk
  • Prenatal diagnosis
  • Capillary Sequencing

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217
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Dried Blood Spots | Buccal Swabs

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81479x1
Yes
Yes
  • 277.3 Amyloidosis
  • 279.4 Autoimmune disease, not elsewhere classified
  • 713.7 Other general diseases with articular involvement Code first underlying disease, as: amyloidosis (277.30-277.39), familial Mediterranean fever (277.31) sarcoidosis (135)
* For price inquiries please email zebras@genedx.com

References

  1. Aksentijevich et al., (2007) Arth Rheum 56:1273-1285

Forms and Documents

Test Details

ELANE (ELA2), LPIN2, MEFV, MVK, NLRP3 (CIAS1), PSTPIP1, TNFRSF1A
  • Confirmation of a clinical diagnosis
  • To assist in determining the most appropriate therapy, as the response to specific therapeutic modalities depends on the diagnosis
  • Recurrence risk
  • Carrier testing in at-risk family members
  • Prenatal diagnosis
  • Next-Gen Sequencing

Ordering

367
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x1, 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Aksentijevich et al., (2007) Arth Rheum 56:1273-1285
  2. Dode et al., (2002) Arth Rheum 46:2181-2188
  3. Aksentijevich et al., (2001) Am J Hum Genet 69:301-314
  4. Booty et al., (2009) Arth Rheum 60:1851-1861
  5. Touitou (2001) Eur J Hum Genet 9:473-483
  6. Aksentijevich et al., (1999) Am J Hum Genet 64:949-962
  7. Aganna et al., (2003) Arth Rheum 48:2632-2644
  8. Cuisset et al., (2001) Eur J Hum Genet 9:260-266
  9. Mandey et al., (2006) Hum Mutat 27:796-802
  10. D’Osualdo et al., (2005) Eur J Hum Genet 13:314-320
  11. El-Shanti et al., (2007) Clin Ortho Rel Res 462:11-19
  12. Shoham et al,, (2003) PNAS 100:13501-13506
  13. Wise et al,, (2002) Hum Mol Genet 11:961-969
  14. Horwitz, M. (1999) Nat Gen 23:433-436
  15. Bellanne-Chantelot (2004) Blood 103: 4119-4125
  16. Dale et al., (2000) Blood 96:2317-2322

Forms and Documents

Test Details

ABHD12, ACTB, ACTG1, ADCY1, ADGRV1 (GPR98), AIFM1, ALMS1, ANKH, ATP6V1B1, BDP1, BSND, CABP2, CACNA1D, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CHD7, CIB2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, CRYM, DCDC2, DFNA5, DFNB59, DIABLO, DIAPH1, DIAPH3, DNMT1, DSPP, EDN3, EDNRB, ELMOD3, EPS8, ESPN, ESRRB, EYA1, EYA4, FGF3, FGFR1, FGFR2, FGFR3, FOXI1, GATA3, GIPC3, GJA1, GJB2(CX26), GJB3(CX31), GJB6(CX30), GPSM2, GRHL2, GRXCR1, HARS, HARS2, HGF, HOMER2, HSD17B4, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LRTOMT, MARVELD2, MCM2, MIR96, MITF, MSRB3, MT-CO1, MT-RNR1, MT-TL1, MT-TS1, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NDP, NLRP3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDZD7, PMP22, PNPT1, POLR1D, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, RIPOR2, S1PR2, SALL1, SEMA3E, SERPINB6, SIX1, SIX5, SLC17A8, SLC26A4, SLC26A5, SLC33A1, SLITRK6, SMPX, SNAI2, SOX10, SOX2, STRC, SYNE4, TBC1D24, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TSPEAR, USH1C, USH1G, USH2A, WFS1, WHRN(DFNB31)
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
  • Genetic counseling, especially recurrence risk and prenatal diagnosis.
  • Next-Gen Sequencing
  • Long Range PCR
  • Sanger/ABI sequencing
  • Deletion/Duplication Analysis

Ordering

J806
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81430x1, 81431x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Morton et al. (2006) N. Engl. J. Med. 354 (20):2151-64 (PMID: 16707752)
  2. Wroblewska-Seniuk et al. (2017) Pediatr. Res. : (PMID: 27861465)
  3. Hilgert et al. (2009) Mutat. Res. 681 (2-3):189-96 (PMID: 18804553)
  4. Sloan-Heggen et al. (2016) Hum. Genet. 135 (4):441-50 (PMID: 26969326)
  5. Shearer et al. (2010) Proceedings Of The National Academy Of Sciences Of The United States Of America 107 (49):21104-9 (PMID: 21078986)
  6. Sommen et al. (2016) Hum. Mutat. 37 (8):812-9 (PMID: 27068579)
  7. Venkatesh et al. (2015) Med J Armed Forces India 71 (4):363-8 (PMID: 26663965)
  8. Kochhar et al. (2007) Genet. Med. 9 (7):393-408 (PMID: 17666886)
  9. Martínez et al. (2009) Antioxid. Redox Signal. 11 (2):309-22 (PMID: 18837651)