Orphanet: Diagnosi dell_ittiosi [pannello di geni]
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Diagnosis of ichthyosis [panel of genes]

  • Laboratorio Research and Innovation s.r.l.
  • Research&Innovation S.r.l. (R&I Genetics)
  • Torre della Ricerca - C.so Stati Uniti 4 int F
  • 35127 PADOVA
  • ITALY
  • Director of laboratory : Dr Alberta LEON
  • More information
  • Phone : 39 049 8705062
  • Additional Phone : -
  • Fax : 39 049 8706696
  • Website
  • Contact
Last update: June 2019

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (22)
Acral peeling skin syndrome
Acral self-healing collodion baby
Annular epidermolytic ichthyosis
Autosomal dominant epidermolytic ichthyosis
Autosomal recessive epidermolytic ichthyosis
Bathing suit ichthyosis
Congenital non-bullous ichthyosiform erythroderma
Congenital reticular ichthyosiform erythroderma
Exfoliative ichthyosis
Harlequin ichthyosis
Ichthyosis hystrix of Curth-Macklin
Ichthyosis-hypotrichosis syndrome
Ichthyosis-prematurity syndrome
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Keratoderma hereditarium mutilans with ichthyosis
Lamellar ichthyosis
Peeling skin syndrome type A
Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome
Recessive X-linked ichthyosis
Self-improving collodion baby
Superficial epidermolytic ichthyosis
Syndromic recessive X-linked ichthyosis
List of genes tested (including panels) (24)
ABCA12
ALOX12B
ALOXE3
CAST
CERS3
CHST8
CSTA
CYP4F22
FLG2
KRT1
KRT10
KRT2
LIPN
LOR
NIPAL4
PNPLA1
SDR9C7
SERPINB8
SLC27A4
ST14
STS
SULT2B1
TGM1
TGM5
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.