Forms and Documents
Test Details
Expand Genes
ELANE (ELA2), LPIN2, MEFV, MVK, NLRP3 (CIAS1), PSTPIP1, TNFRSF1A
- Chronic Infantile Neurologic Cutaneous and Articular Syndrome
- Cyclic Neutropenia
- Familial Cold Autoinflammatory Syndrome
- Familial Cold Urticaria syndrome
- Familial Hibernian Fever
- Familial Mediterranean Fever
- Hyper-IgD Syndrome
- Majeed Syndrome
- Muckle-Wells Syndrome
- Neonatal Onset Multisystem Inflammatory Disease
- Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne Syndrome
- TNF Receptor-Associated Periodic Syndrome
- 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
Buccal Swabs
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
Billing
81404x1, 81479x1
Yes
Yes
For price inquiries please email zebras@genedx.com
**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
References
- Aksentijevich et al., (2007) Arth Rheum 56:1273-1285
- Dode et al., (2002) Arth Rheum 46:2181-2188
- Aksentijevich et al., (2001) Am J Hum Genet 69:301-314
- Booty et al., (2009) Arth Rheum 60:1851-1861
- Touitou (2001) Eur J Hum Genet 9:473-483
- Aksentijevich et al., (1999) Am J Hum Genet 64:949-962
- Aganna et al., (2003) Arth Rheum 48:2632-2644
- Cuisset et al., (2001) Eur J Hum Genet 9:260-266
- Mandey et al., (2006) Hum Mutat 27:796-802
- D’Osualdo et al., (2005) Eur J Hum Genet 13:314-320
- El-Shanti et al., (2007) Clin Ortho Rel Res 462:11-19
- Shoham et al,, (2003) PNAS 100:13501-13506
- Wise et al,, (2002) Hum Mol Genet 11:961-969
- Horwitz, M. (1999) Nat Gen 23:433-436
- Bellanne-Chantelot (2004) Blood 103: 4119-4125
- Dale et al., (2000) Blood 96:2317-2322