|
Broad subtelomeric screening
|
All subtelomeres
|
P069-025Rimproved
|
€ 228
|
|
Broad subtelomeric screening
|
All subtelomeres
|
P069-050Rimproved
|
€ 456
|
|
Broad subtelomeric screening
|
All subtelomeres
|
P069-100Rimproved
|
€ 912
|
|
CMT2B/2D/2F
|
various
|
P406-025Rnew
|
€ 228
|
|
CMT2B/2D/2F
|
various
|
P406-050Rnew
|
€ 456
|
|
CMT2B/2D/2F
|
various
|
P406-100Rnew
|
€ 912
|
|
Cold-induced urticaria
|
16q23
|
P430-025Rnew
|
€ 228
|
|
Cold-induced urticaria
|
16q23
|
P430-050Rnew
|
€ 456
|
|
Cold-induced urticaria
|
16q23
|
P430-100Rnew
|
€ 912
|
|
Familial melanoma
|
CDKN2A, CDKN2B, CDK4, MITF E318K
|
P419-025Rnew
|
€ 228
|
|
Familial melanoma
|
CDKN2A, CDKN2B, CDK4, MITF E318K
|
P419-050Rnew
|
€ 456
|
|
Familial melanoma
|
CDKN2A, CDKN2B, CDK4, MITF E318K
|
P419-100Rnew
|
€ 912
|
|
Hereditary nonpolyposis colon cancer (HNPCC)
|
MSH6
|
P072-025Rimproved
|
€ 228
|
|
Hereditary nonpolyposis colon cancer (HNPCC)
|
MSH6
|
P072-050Rimproved
|
€ 456
|
|
Hereditary nonpolyposis colon cancer (HNPCC)
|
MSH6
|
P072-100Rimproved
|
€ 912
|
|
Hirschsprung disease, or Aganglionic Megacolon
|
RET 10q11.2, ZFHX1B 2q22.3, EDN3 20q13.3 and GDNF 5q13.2
|
P169-025Rimproved
|
€ 228
|
|
Hirschsprung disease, or Aganglionic Megacolon
|
RET 10q11.2, ZFHX1B 2q22.3, EDN3 20q13.3 and GDNF 5q13.2
|
P169-050Rimproved
|
€ 456
|
|
Hirschsprung disease, or Aganglionic Megacolon
|
RET 10q11.2, ZFHX1B 2q22.3, EDN3 20q13.3 and GDNF 5q13.2
|
P169-100Rimproved
|
€ 912
|
|
LPL deficiency
|
LPL 8p21.3
|
P218-025Rimproved
|
€ 228
|
|
LPL deficiency
|
LPL 8p21.3
|
P218-050Rimproved
|
€ 456
|
|
LPL deficiency
|
LPL 8p21.3
|
P218-100Rimproved
|
€ 912
|
|
Lissencephaly
|
LIS1, DCX, POMT1, POMGnT1, FLNA
|
P061-025Rimproved
|
€ 228
|
|
Lissencephaly
|
LIS1, DCX, POMT1, POMGnT1, FLNA
|
P061-050Rimproved
|
€ 456
|
|
Lissencephaly
|
LIS1, DCX, POMT1, POMGnT1, FLNA
|
P061-100Rimproved
|
€ 912
|
|
Lymphoproliferative syndrome
|
SH2D1A and XIAP (Xq25); ITK (5q33)
|
P205-025Rimproved
|
€ 228
|
|
Lymphoproliferative syndrome
|
SH2D1A and XIAP (Xq25); ITK (5q33)
|
P205-050Rimproved
|
€ 456
|
|
Lymphoproliferative syndrome
|
SH2D1A and XIAP (Xq25); ITK (5q33)
|
P205-100Rimproved
|
€ 912
|
|
Mental Retardation; 1p-deletion, Williams, Smith-Magenis, Miller-Dieker, DiGeorge, Prader-Willi, Alagille, Saethre-Chotzen, Sotos
|
Various
|
P064-025Rimproved
|
€ 228
|
|
Mental Retardation; 1p-deletion, Williams, Smith-Magenis, Miller-Dieker, DiGeorge, Prader-Willi, Alagille, Saethre-Chotzen, Sotos
|
Various
|
P064-050Rimproved
|
€ 456
|
|
Mental Retardation; 1p-deletion, Williams, Smith-Magenis, Miller-Dieker, DiGeorge, Prader-Willi, Alagille, Saethre-Chotzen, Sotos
|
Various
|
P064-100Rimproved
|
€ 912
|
|
Paragangliomas (PGL)
|
SDHD 11q23.1, SDHB 1p36.1, SDHC 1q23.3
|
P226-025Rimproved
|
€ 228
|
|
Paragangliomas (PGL)
|
SDHD 11q23.1, SDHB 1p36.1, SDHC 1q23.3
|
P226-050Rimproved
|
€ 456
|
|
Paragangliomas (PGL)
|
SDHD 11q23.1, SDHB 1p36.1, SDHC 1q23.3
|
P226-100Rimproved
|
€ 912
|
|
Primary ciliary dyskinesia (PCD)
|
DNAI1 9p21
|
P237-025Rimproved
|
€ 228
|
|
Primary ciliary dyskinesia (PCD)
|
DNAI1 9p21
|
P237-050Rimproved
|
€ 456
|
|
Primary ciliary dyskinesia (PCD)
|
DNAI1 9p21
|
P237-100Rimproved
|
€ 912
|
|
RETT syndrome
|
MECP2, Xq28
|
P015-025Rimproved
|
€ 228
|
|
RETT syndrome
|
MECP2, Xq28
|
P015-050Rimproved
|
€ 456
|
|
RETT syndrome
|
MECP2, Xq28
|
P015-100Rimproved
|
€ 912
|
|
Rett syndrome, atypical
|
CDKL5 Xp22, NTNG1 1p13.3, ARX Xp22.1
|
P189-025Rimproved
|
€ 228
|
|
Rett syndrome, atypical
|
CDKL5 Xp22, NTNG1 1p13.3, ARX Xp22.1
|
P189-050Rimproved
|
€ 456
|
|
Rett syndrome, atypical
|
CDKL5 Xp22, NTNG1 1p13.3, ARX Xp22.1
|
P189-100Rimproved
|
€ 912
|
|
Rubinstein–Taybi syndrome (RSTS)
|
CREBBP 16p13.3
|
P313-025Rimproved
|
€ 228
|
|
Rubinstein–Taybi syndrome (RSTS)
|
CREBBP 16p13.3
|
P313-050Rimproved
|
€ 456
|
|
Rubinstein–Taybi syndrome (RSTS)
|
CREBBP 16p13.3
|
P313-100Rimproved
|
€ 912
|