zum Vademecum
Indikation

Verdacht auf Hämoglobinopathien (z.B. Thalassämien, Sichelzellanämie).

Probenmaterial

KSSG Einsender und Externer Einsender:
4 ml EDTA-Blut (Röhrchen mit Stopfen violett)
separates Röhrchen per Express einsenden

Methode

 PCR, allel-spezifische reverse Hybridisierung (Strip Assay)

b-Globin- Mutation MED (Mediterranean)

-101 [C>T] mutant c.-151C>T

-87 [C>G] mutant c.-137C>G

-30 [T>A] mutant c.-80T>A

codon 5 [-CT] mutant c.17_18delCT

codon 6 [G>A] HbC mutant c.19G>A

codon 6 [A>T] HbS mutant c.20A>T

codon 6 [-A] mutant c.20delA

codon 8 [-AA] mutant c.25_26delAA

codon 8/9 [+G] mutant c.27_28insG

codon 15 [TGG>TGA] mutant c.48G>A

codon 27 [G>T] Knossos mutant c.82G>T

IVS 1.1 [G>A] mutant c.92+1G>A

IVS 1.5 [G>C] mutant c.92+5G>C

IVS 1.6 [T>C] mutant c.92+6T>C

IVS 1.110 [G>A] mutant c.93-21G>A

IVS 1.116 [T>G] mutant c.93-15T>G

IVS 1.130 [G>C] mutant c.93-1G>C

codon 39 [C>T] mutant c.118C>T

codon 44 [-C] mutant c.135delC

IVS 2.1 [G>A] mutant c.315+1G>A

IVS 2.745 [C>G] mutant c.316-106C>G

IVS 2.848 [C>A] mutant c.316-3C>A

b-Globin- Mutation IME (India & Middle East)

cap+1 [A>C] mutant c.-50A>C

codon 5 [-CT] mutant c.17_18delCT

codon 6 [A>T] HbS mutant c.20A>T

codon 8 [-AA] mutant c.25_26delAA

codon 8/9 [+G] mutant c.27_28insG

codon 15 [TGG>TAG] mutant c.47G>A

codon 16 [-C] mutant c.51delC

codon 22 [7bp del] mutant c.68_74delAAGTTGG

codon 30 [G>C] mutant c.92G>C

IVS 1.1 [G>A] mutant c.92+1G>A

IVS 1.1 [G>T] mutant c.92+1G>T

IVS 1.5 [G>C] mutant c.92+5G>C

IVS 1.6 [T>C] mutant c.92+6T>C

IVS 1.110 [G>A] mutant c.93-21G>A

IVS 1-25 [25bp del] mutant c.93-21_96del

codon 36/37 [-T] mutant c.112delT

codon 39 [C>T] mutant c.118C>T

codon 41/42 [-TTCT] mutant c.126_129delCTTT

codon 44 [-C] mutant c.135delC

IVS 2.1 [G>A] mutant c.315+1G>A

IVS 2.745 [C>G] mutant c.316-106C>G

619bp del mutant

b-Globin- Mutation SEA (Southeast Asia)

-31 [A>G] mutant c.-81A>G

-29 [A>G] mutant c.-79A>G

-28 [A>G] mutant c.-78A>G

cap+1 [A>C] mutant c.-50A>C

initiation cd [ATG>AGG] mutant c.2T>G

codon 8/9 [+G] mutant c.27_28insG

codon 15 [TGG>TAG] mutant c.47G>A

codon 17 [A>T] mutant c.52A>T

codon 19 [A>G] Malay mutant c.59A>G

codon 26 [G>A] HbE mutant c.79G>A

codon 27/28 [+C] mutant c.84_85insC

IVS 1.1 [G>T] mutant c.92+1G>T

IVS 1.5 [G>C] mutant c.92+5G>C

codon 41/42 [-TTCT] mutant c.126_129delCTTT

codon 43 [G>T] mutant c.130G>T

codon 71/72 [+A] mutant c.216_217insA

codon 89/90 [-GT] mutant c.269_270delGT

codon 90 [G>T] mutant c.271G>T

codon 95 [+A] mutant c.287_288insA

IVS 2.1 [G>A] mutant c.315+1G>A

IVS 2.654 [C>T] mutant c.316-197C>T

codon 121 [G>T] mutant c.364G>T

Frequenz / ext. Labor

1 x wöchentlich

Tarif
Tarif
2105.09
Taxpunkte
93
Preis in CHF
93.00