GeneDx

Epidermolytic Ichthyosis (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

Genes:

Expand Genes

KRT1, KRT10

Disorders:

Clinical Utility:

Confirmation of clinical diagnosis
Prenatal diagnosis

Ordering

Test Code:

1181

Turnaround Time *:

6 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

Yes

ABN Required

Yes

ICD Codes:

757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma

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.

References

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

Genes:

Expand Genes

KRT2

Disorders:

Clinical Utility:

Confirmation of clinical diagnosis
Prenatal diagnosis

Ordering

Test Code:

122

Turnaround Time *:

6 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81479x1

New York Approved

No

ABN Required

Yes

ICD Codes:

757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma

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.

References

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 Form

Test Details

Genes:

Expand Genes

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

Disorders:

Clinical Utility:

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

Notes:

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.

Ordering

Test Code:

708

Turnaround Time *:

6 weeks (4 weeks for newborns <1 month)

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

Alternative Specimen:

Dried Blood Spots | Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

CPT Codes** :

81252x1, 81401x1, 81479x1

New York Approved

Yes

ABN Required

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.