| Detailled Protocol |
Reference 5 TESTS |
Reference 10 TESTS
|
Probes
|
|
 |
LPU004-S |
LPU004
|
DiGeorge / VCFS
TUPLE 1 + 22q13.3 |
Unique !
Clone N85A3 (locus
SHANK3) for the control probe in 22qter
|
 |
LPU010-S |
LPU010
|
DiGeorge / VCFS
N25 + 22q13.3 |
 |
LPU005-S |
LPU005
|
Prader Willi / Angelman
SNRPN
+ control 15qter |
Locus SNRPN and
control telomere 15qter
For
interphase FISH !
|
 |
LPU006-S |
LPU006
|
Angelman UBE3A + control
15qter |
Locus D15S10 and
control telomere 15qter
For
interphase FISH !
|
 |
LPU009-S |
LPU009
|
Wolf-Hirschhorn + control
4qter |
Optimal
coverage
of the breaking points !
|
 |
LPU011-S |
LPU011
|
Williams-Beuren
+ control sat7 |
 |
LPU012-S | LPU012 |
Alagille
(20p12) + control 20q |
Unique
! on the world market ! |
 |
LPU013-S | LPU013 |
Cri-Du-Chat
(5p15.2) / SOTOS (5q35) |
Unique
! combination of two probes ! |
 |
LPU014-S | LPU014 |
DiGeorge TBX1
(22q11) + control 22q13.3 |
Unique !
Clone N85A3 (locus SHANK3) for the control probe in 22qter
|
 |
LPU015-S | LPU015 |
DiGeorge II
(10p14) + control Sat10 |
|
 |
LPU016-S | LPU016 |
Kallman / Steroid
Sulphatase (Xpter-
Xp22.32) |
Unique ! combination of two probes ! |
 |
LPU017-S | LPU017 |
Neurofibromatosis
(17q11.2) + control
Sat17 |
Unique ! on the world market ! |
 |
LPU018-S | LPU018 |
XIST (Xq13.2)
+ control SatX |
|
 |
LPU019-S | LPU019 |
Smith Magenis
(RAI1) (17p11.2) / Miller Dieker |
2 tests in one single tube RAI1 locus now covered by the new SM probe |
 |
LPU020-S | LPU020 |
1p36 (1p36.33)
+ control 1q |
|
 | LPU021-S | LPU021 | CHARGE (CHD7) (8q12.1-8q12.2) + control Sat 8 | Unique ! on the world market ! |
 | LPU022-S | LPU022 | Langer-Giedion (TRPS1, EXT1) (8q23.3, 8q24.11-8q24.12) + control Sat 8 | 3 colors probe ! (TRPS1 red, EXT1 green, D8Z2 aqua) |
 | LPU023-S | LPU023 | Rubinstein-Taybi (CREBBP) (16p13.3) + control Sat 16 | Unique ! on the world market ! |
 | LPU024-S | LPU024 | Saethre-Chotzen (TWIST1) + Williams-Beuren (WBSCR) (7p21.1, 7q11.23) | Unique ! combination of two probes ! |
 | LPU025-S | LPU025 | SHOX (Xp22.33/Yp11.2) + controls sat X + sat Y | 3 colors probe ! (SHOX red, DYZ1 green, DXZ1 aqua) |
 | LPU026-S | LPU026 | SRY (Yp11.2) + controls sat X + sat Y | 3 colors probe ! (SRY red, DYZ1 green, DXZ1 aqua) |