Header First

This is a debugging block

Header Second

This is a debugging block

Preface First

This is a debugging block

Preface Second

This is a debugging block

Preface Third

This is a debugging block

Targeted Genetica Panels

Inhoud

This is a debugging block

 

GENETICA  PANELS  DIAGNOSTIEK

ZIEKTEBEELD

1

Fagocytendefect

CYBB, CYBA, NCF1, NCF2, NCF4, CARD9, RAC2, G6PD, CEBPE, MPO, ITGB2, SLC35C1, FERMT3, CALDAGGEF1

CGD
CARD9-deficiëntie
Rac2-deficiëntie
G6PD-deficiëntie
Specifieke-korrel defect (SGD)
MPO-deficiëntie
LAD-type I
LAD-type II
LAD-type III
CALDAGGEF1-deficiëntie

2

Neutropenie

ELANE, HAX1, GFI1, G6PC3, WASP, SLC37A4, STK4, GATA2, LYST, RAB27A, AP3B1, SBDS, TAZ, CXCR4, RMRP

SCN, type 1-5 (incl X-gebonden vorm en Kostmann syndroom)
STK4-deficiëntie
GATA2-deficiëntie (variabel, incl AML/MDS)
Chediak-Higashi syndroom
Griscelli syndroom
Hermanski-Pudlak syndroom, type-2
Shwachman-Diamond syndroom
Barth syndroom
WHIM (warts, hypoimmunoglobulinemie, myelokathexie)
Cartilage Hair hypoplasie   

3

Beenmergfalen / aplastische anemie

RUNX1, CEPBA, VPS45, GATA1, GATA2, ASXL1, DKC1, TERT, TERC, TINF2, MPL, GFI1B, SBDS, RMRP

familiair AML/MDS syndroom
GATA1-deficiëntie (anemie / trombopenie)
GATA2-deficiëntie (variabel; AML/MDS)
Dyskeratosis congenita / Hoyeraal Heidrarson syndroom
Amegakaryocytaire trombocytopenie
Gray Platelet syndroom
Shwachman Diamond syndroom
Cartilage Hair hypoplasie 

4

 

Hemofagocytose

PRF1, UNC13D,STX11, STXBP2, CD27, XIAP, SH2D1A, LYST, RAB27A, AP3B1

HLH syndroom
Chediak Higashi syndroom
Griscelli syndroom
Hermanski-Pudlak syndroom, type-2
EBV-proliferatief syndroom

5

Hyper IgE syndroom

DOCK8, STAT3, STK4, WAS

Job syndroom
Wiskott Aldrich syndroom

6

Complement terminale route

C3, C5, C6, C7, C8A, C8B, C8G, C9 

purulente infecties (m.n. meningococceninfecties)

7

Complement alternatieve route

CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, C3, CD46, CD59, THBD, ADAMTS13, DGKE, PLG 

purulente infecties
aHUS
TTP

8

Complement klassieke route

C4A, C4B, C2, C1S, C1R, C1QA, C1QB, C1QC,  MASP2, DNASE1L3, TREX1, SERPING1

Autoimmuniteit
SLE (monogenetisch)
C1 esterase remmer deficiëntie (HAE)

 

Postscript First

This is a debugging block

Postscript Second

This is a debugging block

Postscript Third

This is a debugging block

Postscript Fourth

This is a debugging block