Bullous Ichthyosiform Erythroderma

EI presents at birth with erythroderma, blisters or erosions, and larger areas of denuded skin. While skin fragility decreases with age, severe hyperkeratosis with a verrucous, ridged or cobblestone surface develops over time. Palms and soles may be severely involved or completely spared. There is a mosaic form of the disease, likely due to somatic mutation during embryonic development, in which the affected individual has features of the disease limited to certain areas of the skin, and often following the lines of Blaschko (so-called ‘linear epidermolytic hyperkeratotic nevus’). A mild variant of EI with superficially peeling or denuded areas described as ‘molting’ or ‘Mauserung’ is known as superficial epidermolytic ichthyosis (SEI; previously termed ichthyosis bullosa of Siemens).

Tests Available

Forms and Documents

Test Info Sheet Test Requisition

Test Details

KRT1, KRT10
  • Confirmation of clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

1181
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | 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. Irvine & McLean. Human keratin diseases: the increasing spectrum of disease and subtlety of the genotype-phenotype correlation. Br J Dermatol 140:815-828, 1999

Forms and Documents

Test Info Sheet Test Requisition

Test Details

KRT2
  • Confirmation of clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

122
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
* For price inquiries please email zebras@genedx.com

References

  1. Irvine & McLean. Human keratin diseases: the increasing spectrum of disease and subtlety of the genotype-phenotype correlation. Br J Dermatol 140:815-828, 1999

Forms and Documents

Test Requisition Form Test Info Sheet Diagnostic Sensitivity

Test Details

ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSE, CASP14, CDSN, CERS3, CHST8, CLDN1, CSTA, CYP4F22, EBP, ELOVL4, FLG, FLG2, GJB2, GJB3, GJB4, GJB6, KDSR, KRT1, KRT10, KRT2, KRT9, LIPN, LOR, MBTPS2, NIPAL4, NSDHL, PEX7, PHGDH, PHYH, PNPLA1, POMP, PSAT1, SDR9C7, SERPINB8, 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
  • Preparation 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 (4 weeks for newborns <1 month)
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Dried Blood Spots | Buccal Swabs

Billing

81252x1, 81254x1, 81401x1, 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com