Erythrokeratodermia Variabilis (EKV)

This skin disorder presents in infancy with transient, erythematous patches that remain for minutes to hours or longer. In addition, hyperkeratosis develops which can be either generalized or localized and fixed. Both erythema and hyperkeratotic plaques have sharply demarcated edges. Palmoplantar keratoderma is a variable feature. Giroux-Barbeau type is associated with ataxia, usually evident in middle age.

Tests Available

Forms and Documents

Test Details

GJB3 (Cx31), GJB4 (Cx30.3)
  • Confirmation of the clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

119
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
* For price inquiries please email zebras@genedx.com

References

  1. Richard et al. Nat Genet 1998; 20: 366-369
  2. Richard et al. Hum Genet 106:321-329, 2000
  3. Macari et al. Am J Hum Genet 2000, 67:1296-1301
  4. Gottfried et al. Hum Mol Genet 11:1311-1316, 2002
  5. Richard et al. 2003, JID 120:601-609
  6. Terrinoni et al. JID 122:837-839, 2004
  7. Common et al. JID 125:920-927, 2005

Forms and Documents

Test Details

ABCA12, ABHD5, AGPS, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSE, CASP14, CERS3, CLDN1, CYP4F22, EBP, ELOVL4, FLG, GJB2 (Cx26), GJB3 (Cx31), GJB4 (Cx30.3), GJB6 (Cx30), KRT1, KRT10, KRT2, KRT9, LIPN, LOR, NIPAL4(Ichthyin), PEX7, PHGDH, PHYH, PNPLA1, PNPLA2, POMP, PSAT1, SDR9C7, SLC27A4, SNAP29, SPINK5, ST14, STS, TGM1, TGM5, VPS33B, ZMPSTE24
  • Identification of the specific molecular basis of congential ichthyosis or related skin disorders
  • Genetic counseling and recurrence risk assessment
  • Option for prenatal testing in future pregnancies

As needed, based on the referring diagnosis and coverage achieved by the XomeDxSlice-Ichthyosis for a given patient, critical exons with a high yield of mutations will be filled-in by dideoxy sequencing. For any autosomal recessive gene, if one definitive mutation is found by XomeDxSlice sequencing, AND the gene fits the type of ichthyosis reported by the referring physician, capillary sequencing will be used to fill in sequence for exons that are not sufficiently covered (>10X) to find the second mutation. If no second mutation is found by sequencing, deletion/duplication analysis of that gene can be performed at no additional cost can be performed at no additional cost.

Patient samples sent for XomeDxSlice will not be evaluated for secondary findings and therefore will not receive secondary findings as part of their result.\\\"

  • Next-Gen Sequencing

Ordering

708
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81252x1, 81254x1, 81479x11
Yes
Yes
* For price inquiries please email zebras@genedx.com