Inherited Erythromelalgia (IEM)

Inherited erythromelalgia (IEM) is characterized by recurrent attacks of bilateral, symmetric intense pain accompanied by redness, warmth, and swelling. Onset is typically in childhood or adolescence. Symptoms are noted first in the feet, followed by the hands, and in later stages can also involve the legs, arms, face, and ears. Episodes are often triggered by warmth, exercise, alcohol, or other vasodilating agents and may eventually occur multiple times per day or become constant.

Tests Available

Forms and Documents

Test Details

SCN9A
  • Confirmation of a clinical diagnosis
  • To differentiate SCN9A-related pain disorders from other genetic or environmental causes of pain
  • Carrier testing for individuals with a known familial SCN9A mutation
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

650
6-7 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Fertleman et al., (2006) Neuron 52;767- 774.
  2. Faber et al., (2012) Ann Neurol 71 :26-39.
  3. Goldberg et al., (2007) Clin Genet 71:311-319.
  4. Dabby R., (2012) Curr Neurol Neurosci Rep 12 :76-83.
  5. Fischer, T.Z. and Waxman, S.G., (2010) Ann NY Acad Sci 1184:196-207.
  6. Dib-Hajj et al., (2008) Adv in Genet 63:85-110.
  7. Drenth et al., (2005) J Invest Dermatol 124:1233-1238.

Forms and Documents

Test Details

AARS, AIFM1, ATL1, ATP7A, BSCL2, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GLA, GNB4, HARS, HINT1, HSPB1, HSPB8, IGHMBP2, IKBKAP, INF2, KIF1A, KIF5A, LITAF, LMNA, LRSAM1, MFN2, MME, MORC2, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, PLEKHG5, PMP22, PRDM12, PRPS1, PRX, RAB7A, REEP1, RETREG1, SBF1, SBF2, SCN11A, SCN9A, SEPT9, SH3TC2, SLC12A6, SLC52A2, SLC52A3, SPTLC1, SPTLC2, TFG, TRIM2, TRPV4, TTR, WNK1, YARS
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with neuropathy
  • Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

737
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81260X1, 81324X1, 81325X1, 81403x1, 81404x4, 81405x2, 81406x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

ATL1, DNMT1, IKBKAP, KIF1A, NGF, NTRK1, PRDM12, RAB7A, RETREG1, SCN11A, SCN9A, SPTLC1, SPTLC2, WNK1
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with neuropathy
  • Testing of at-risk relatives for specific mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T399
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x1, 81406x1, 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com