|
|
Prenatal & postnatal
|
1p36 deletion syndrome
|
1p36
|
P147-1p36
|
€ 1145
|
|
Angelman
|
UBE3A, MTHFR, GABRB3, AXIN1
|
P336-UBE3A
|
€ 1145
|
|
Beckwith-Wiedemann Syndrome (BWS), Russell-Silver Syndrome (RSS)
|
11p15 region, H19, IGF2, CDKN1C, KCNQ1
|
ME030-BWS/RSS
|
€ 1145
|
|
Broad subtelomere screening
|
All subtelomeres
|
P036-Telomere-3
|
€ 1145
|
|
Broad subtelomeric screening
|
All subtelomeres
|
P069-Telomere-4
|
€ 1145
|
|
Broad subtelomeric screening
|
All subtelomeres
|
P070-Telomere-5
|
€ 1145
|
|
Centromeric screening
|
Centromeres
|
P181-Centromere-1
|
€ 1145
|
|
Centromeric screening
|
Centromeres
|
P182-Centromere-2
|
€ 1145
|
|
Coffin-Lowry Syndrome (CLS)
|
RPS6KA3, PQBP1.
|
P259-RPS6KA3
|
€ 1145
|
|
DiGeorge syndrome
|
22q11
|
P250-DiGeorge
|
€ 1145
|
|
DiGeorge syndrome, Velocardiofacial syndrome (VCFS, Cat eye syndrome (CES)
|
22q11
|
P023-DIGEORGE
|
€ 1145
|
|
Down syndrome, Edwards syndrome, Patau syndrome
|
Chr. 13, 18, 21, X, Y
|
P095-Aneuploidy
|
€ 1145
|
|
Fragile X
|
FMR1, AFF2
|
ME029-FMR1/AFF2
|
€ 1145
|
|
Idiopathic growth retardation
|
SHOX-Xp22
|
P018-SHOX
|
€ 1145
|
|
Lissencephaly
|
LIS1, DCX, POMT1, POMGnT1, FLNA
|
P061-Lissencephaly
|
€ 1145
|
|
Mental Retardation; 1p-deletion, Williams, Smith-Magenis, Miller-Dieker, DiGeorge, Prader-Willi, Alagille, Saethre-Chotzen, Sotos
|
Various
|
P064-MR-1
|
€ 1145
|
|
Mental retardation, Wolf-Hirschlorn, Cri du Chat, Langer-Giedon, WAGR, Rubinstein-Taybi, Down, Kabuki
|
Various
|
P096-MR-2
|
€ 1145
|
|
Mental retardation, x-linked (XLMR)
|
Chromosome X
|
P106-MRX
|
€ 1145
|
|
Microdeletion follow-up
|
2p16, Langer Giedion, 9q22, WAGR, 15q24, 17q21
|
P371-Microdeletion-5
|
€ 1145
|
|
Microdeletion follow-up
|
Sotos, DiGeorge, Rubinstein-Taybi, NF1
|
P372-Microdeletion-6
|
€ 1145
|
|
Microdeletion follow-up
|
1p36, 3q29, Wolf-Hirschlorn, Cri du Chat, Phelan-McDermid
|
P373-Microdeletion-7
|
€ 1145
|
|
Microdeletion follow-up
|
7q11, PWS/AS, Miller-Dieker, Smith-Magenis, RETT
|
P374-Microdeletion-8
|
€ 1145
|
|
Microdeletion syndromes
|
Various
|
P297-Microdeletion-2
|
€ 1145
|
|
Microdeletion syndromes
|
Various
|
P245-Microdeletion-1
|
€ 1145
|
|
Neurofibromatosis
|
NF1 17q11.2
|
P122-NF1-area
|
€ 1145
|
|
Ocular malformations, hereditary
|
PAX6 11p13, SOX2 3q26, WT1, 11p13
|
P219-PAX6
|
€ 1145
|
|
Phelan-Mcdermid syndrome, Telomeric monosomy 22q13.3
|
22q13.3, SHANK3, ACR, RABL2B
|
P188-22q13
|
€ 1145
|
|
Prader Willi syndrome (PWS), Angelman syndrome (AS)
|
PWS/AS region (15q11-13), MKRN3, MAGEL2, NDN, SNRPN, UBE3A, ATP10A, GABRB3, OCA2
|
ME028-PWS/AS
|
€ 1145
|
|
Prenatal microdeletion screening
|
Various
|
P290-Prenatal
|
€ 1145
|
|
Spinal Muscular Atrophy (SMA)
|
SMN1, SMN2, 5q13
|
P021-SMA
|
€ 1145
|
|
Spinal Muscular Atrophy (SMA)
|
SMN1, SMN2, 5q13
|
P060-SMA-carrier
|
€ 1145
|
|
Subtelomere screening
|
2p, 3p, 6p, 8p
|
P208-Telomere-6
|
€ 1145
|
|
Subtelomeric screening
|
22q11, 22q13
|
P356-Chromosome 22q
|
€ 1145
|
|
Subtelomeric screening
|
17q, 18q, 19q, 20q.
|
P320-Telomere-13
|
€ 1145
|
|
Subtelomeric screening
|
17p, 18p, 19p, 20p
|
P249-Telomere-8
|
€ 1145
|
|
Subtelomeric screening
|
1q, 2q, 3q, 4q
|
P264-Telomere-9
|
€ 1145
|
|
Subtelomeric screening
|
9p, 10p, 11p, 12p
|
P230-Telomere-7
|
€ 1145
|
|
Subtelomeric screening
|
5q, 6q, 7q, 8q
|
P277-Telomere-10
|
€ 1145
|
|
Subtelomeric screening
|
13q, 14q, 15q, 16q
|
P291-Telomere-12
|
€ 1145
|
|
Subtelomeric screening
|
9q, 10q, 11q, 12q
|
P286-Telomere-11
|
€ 1145
|
|
Trichorhinophalangeal syndrome type I (TRPS1), Langer-Giedion syndrome (LGS)
|
TRPS1 8q24
|
P228-TRPS1
|
€ 1145
|
|
Williams-Beuren syndrome
|
WBS criticial region 7q11.23
|
P029-WBS
|
€ 1145
|
|