Ichthyosis Prematurity Syndrome

Neonates with Ichthyosis Prematurity Syndrome (IPS) are born prematurely due to complications such as polyhydramnios in the second trimester of pregnancy. Newborns present at birth with a thick, caseous, desquamating epidermis. Asphyxia, respiratory complications, and transient eosinophilia may occur. Life-threatening complications cease after the perinatal period, and skin findings transition to a mild form of generalized ichthyosis, often associated with severe pruritis. Many patients also experience food/respiratory allergies with elevated IgE levels and serum eosinophilia, features typically indicative of atopic diathesis. The clinical diagnosis of IPS can be supported by pathognomonic electron microscopic findings in a skin biopsy specimen showing trilamellar membrane aggregations in the upper epidermis.

Tests Available

Forms and Documents

Test Details

SLC27A4
  • Confirmation of a clinical diagnosis
  • Carrier testing for at-risk family members
  • Prenatal diagnosis for known familial mutations
  • Capillary Sequencing

Ordering

712
4 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. Khnykin et al (2012) J Am Acad Dermatol 66:606-616
  2. Klar et al (2009) Am J Hum Genet 85:248-253
  3. Morice-Picard et al (2010) Am J Med Genet 15A:2664-2665
  4. Sobol et al (2011) BMC Research Notes 4:90

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