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Most neonates with Congenital Recessive Ichthyosis present as collodion babies with a taut, translucent or opaque membrane that encases the entire body and lasts for days to weeks. In severe cases, ectropion, eclabium, and scarring alopecia of the scalp and eyebrows may be present. After shedding the collodion membrane, the presentation and severity of CRI [...]+ Mutation-specific testing + Prenatal testing
Most neonates with Congenital Recessive Ichthyosis present as collodion babies with a taut, translucent or opaque membrane that encases the entire body and lasts for days to weeks. In severe cases, ectropion, eclabium, and scarring alopecia of the scalp and eyebrows may be present. After shedding the collodion membrane, the presentation and severity of CRI between individuals can vary significantly. At one end of the spectrum is severe ‘classic’ lamellar ichthyosis (LI), which is characterized by large, dark brown, plate-like scale without underlying erythroderma. At the other end is severe ‘classic’ NBCIE, with fine, whitish scale and intense redness (eryhthroderma) of the skin. The clinical features of NBCIE tend to be milder than in LI and demonstrate a greater variability in the intensity of redness, scale, and involvement of palms and soles. However, NBCIE may cause substantial metabolic stress in young children. The variability of CRI ranges from severe to mild to almost complete resolution of the skin disorder (so-called ‘self-healing collodion baby’). Distinguishing between these disorders on clinical grounds can be useful for clarifying prognosis and management and, to some extent, to choose which genes to analyze. A skin biopsy is not necessary to establish the diagnosis of CRI, and is usually not helpful in differentiating among the different clinical disorders along the spectrum. However, a skin biopsy is useful to differentiate the non-bullous from the bullous forms of ichthyosis. Thus, if blistering is present, histopathological evaluation can be a useful diagnostic tool.+ Mutation-specific testing + Prenatal testing
TGM1 Gene Sequencing
FORMS AND DOCUMENTS
- Clinical Utility:
- Confirmation of a clinical diagnosis
- Carrier testing in unaffected family members
- Prenatal diagnosis
- Lab Method:
- Capillary Sequencing
- Test Code:
- Turnaround Time:
- 8-9 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
- CPT Codes:
- List Price:
- Billing Information:
- View Billing Policy
- ICD Codes:
- 757.1: Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
- 757.39: Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
- Huber M, et al., Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 267:525-8 (1995)
- Russell LJ, et al., Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nat Genet 9:279-83 (1995)
- Shevchenko YO, et al., Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies. Hum Genet 106:492-9 (2000).