Epidermolysis Bullosa | Медицинские услуги «Бурч»

Поиск генетического теста

Все тесты

Epidermolysis Bullosa

Disease/Test Name	Gene Name & Method	Diagnostic Value	Turn Around Time	Price
Epidermolysis Bullosa	İmmunofluorescence & Electron Microscopy Analysis	High	2-3 Months
Epidermolysis Bullosa	Immunofluorescence, Electron Microscopy & Mutation Analysis Identified Gene (COL7A1, CLO17A1, LAMB3, LAMC2, LAMA3, ITGa6, ITGb4, KIND1, ECM1, BPAG1e/BPAG1, PLEC1, Desmoplakin 1, Plakoglobin 1, Plakophilin 1, Connexin 26, Connexin 30, Connexin 30.3, Connexin 31, Connexin 43, Desmocollin 2, Desmoglein 2, CD151, p63, ABCA12 and TGM1)	High	Depends on the Selection of the Gene

Disease Name (Synonym)	Disease OMIM	Inheritance	Remarks
- Junctional Epidermolysis Bullosa	226650	Autosomal Dominant/Autosomal Recessive	Before undertaking mutation analysis, we usually need to carry out immunofluorescence and electron microscopy on a skin biopsy from the affected patient to confirm the clinical diagnosis and identify which gene to screen
- Dystrophic Epidermolysis Bullosa	226600
- Other genodermatoses	131750

Method	Sample	Volume	Tube	Transport	Unacceptable Conditions	Remarks
İmmunofluorescence & Electron Microscopy	Skin biopsy Sample for IMF	x	IMF Tube (in Michel’s Medium)	18-24 C⁰	x	The sample should be send with written consent of the patient.
İmmunofluorescence & Electron Microscopy	Skin biopsy Sample for EM	x	EM Tube	+4 C⁰	x
Immunofluorescence & Electron Microscopy & Targeted Sequencing	Skin biopsy Sample for IMF & EM	x	Skin Biopsy Tubes	18-24 C⁰	Frozen, hemolyzed specimens
	Blood^EDTA	5 ml	Lavender-top	18-24 C⁰	x

Last Updated on Thursday, 21 April 2011 18:52