Acral Peeling Skin Syndrome

Forms and Documents

Test Details

CD151, CDSN, CHST8, COL17A1, COL7A1, CSTA, DSG1, DSP, DST, EXPH5, FERMT1, FLG2, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT1, KRT10, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC, SERPINB8, TGM5
  • Identification of the specific molecular basis of a hereditary blistering disorder
  • Genetic counseling and recurrence risk assessment
  • Preparation for prenatal testing in future pregnancies

If an affected individual is found by XomeDxSlice-EB to have only a single mutation in a gene with recessive inheritance, deletion/duplication analysis of that gene 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

707
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

81406x2, 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Varki et al., 2006 J Med Genet 43:641-52
  2. Varki et al., 2007 J Med Genet. 44:181-92
  3. Schumann et al., 2013 Br J Dermatol. Mar 18
  4. Charlesworth et al., 2013 Br J Dermatol. 168:808-814
  5. Yang et al., 2012 PediatrDermatol. 29:725-31
  6. Has et al., 2012 N Engl J Med. 366:1508-14
  7. Liu et al., 2012 J Invest Dermatol. 132:742-4
  8. Smith 2012 Br J Dermatol. 166:894-6
  9. Has et al., 2011 Hum Mutat. 32:1204-12
  10. Murase et al., 2011Acta DermVenereol. 91:730-1
  11. Uitto J. 2011 ActaDermVenereol. 91:259-61
  12. Almaani et al., 2011 ActaDermVenereol. 91:262-6
  13. Kiritsi et al., 2011 J Med Genet. 48:450-7
  14. Techanukul et al., 2011 ActaDermVenereol. 91:267-70
  15. Pigors et al., 2011 Hum Mol Genet. 20:1811-9
  16. Natsuga et al., 2010 Hum Mutat. 31:1687-98
  17. Hobbs et al., 2010 J Invest Dermatol. 130:2680-3
  18. Fine et al., 2008 J Am AcadDermatol. 58:931-50
  19. Intong et al., 2012 ClinDermatol. 30:70-7
  20. Sprecher E. 2010 DermatolClin. 2028:23-32
  21. Rezniczek et al., 2010 DermatolClin. 28:33-41, A series of review articles in DermatolClin. 2010 Jan;28
  22. Dang et al., 2008 ExpDermatol. 17:553-68
  23. Pfendner EG, Lucky AW Junctional Epidermolysis Bullosa. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews
  24. Seattle (WA): University of Washington, Seattle; 1993-2008, Pfendner EG, Lucky AW: Dystrophic Epidermolysis Bullosa (November 2010) in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online] Copyright, University of Washington,
  25. Pfendner EG & Lucky AW: Epidermolysis Bullosa with Pyloric Atresia (February 2013) in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2010. Available at http://www.gene

Forms and Documents

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