Intellectual Disability
|
Product Name |
Application |
Region |
|
ME028-PWS/AS |
Prader Willi syndrome (PWS), Angelman syndrome (AS) |
PWS/AS region (15q11-13), MKRN3, MAGEL2, NDN, SNRPN, UBE3A, ATP10A, GABRB3, OCA2 |
|
ME029-FMR1/AFF2 |
Fragile X |
FMR1, AFF2 |
|
ME032-UPD7-UPD14 |
Uniparental disomy |
6q24, 7p12, 7q32 and 14q32 |
|
P013-ATRX |
Alpha-Thalassemia/Mental Retardation |
ATRX ; Xq13 |
|
P015-MECP2 |
RETT syndrome |
MECP2, Xq28 |
|
P026-Sotos |
Sotos syndrome |
NSD1, 5q35 |
|
P029-WBS |
Williams-Beuren syndrome |
WBS criticial region 7q11.23 |
|
P036-Subtelomeres Mix 1 CE |
Subtelomeric testing |
All subtelomeres |
|
P046-TSC2 |
Tuberous Sclerosis |
TSC2 16p13.3 |
|
P049-SLC6A8 - ABCD1 |
Creatine transporter, x-linked |
SLC6A8, Xq28 |
|
P061-Lissencephaly |
Lissencephaly |
LIS1, DCX, POMT1, POMGnT1, FLNA |
|
P064-MR-1 |
Mental Retardation; 1p-deletion, Williams, Smith-Magenis, Miller-Dieker, DiGeorge, Prader-Willi, Alagille, Saethre-Chotzen, Sotos |
Various |
|
P070-Subtelomeres Mix 2B CE |
Subtelomeric testing |
All subtelomeres |
|
P075-TCF4-FOXG1 |
Pitt-Hopkins syndrome, Congential variant of Rett syndrome |
TCF4, FOXG1 |
|
P095-Aneuploidy CE |
Down syndrome, Edwards syndrome, Patau syndrome |
Chr. 13, 18, 21, X, Y |
|
P096-MR-2 |
Mental retardation, Wolf-Hirschhorn, Cri du Chat, Langer-Giedon, WAGR, Rubinstein-Taybi, Down, Kabuki |
Various |
|
P103-DPYD |
Dihydropyrimidine dehydrogenase (DPYD) deficiency |
DPYD 1p22 |
|
P106-MRX |
Mental retardation, x-linked (XLMR) |
Chromosome X |
|
P122-NF1-area |
Neurofibromatosis |
NF1 17q11.2 |
|
P124-TSC1 |
Tuberous Sclerosis |
TSC1 9q34 |
|
P141-NIPBL-1 |
Cornelia de Lange syndrome (CDLS) |
NIPBL 5p13.2 |
|
P142-NIPBL-2 |
Cornelia de Lange syndrome (CDLS) |
NIPBL 5q13.1 |
|
P147-1p36 |
1p36 deletion syndrome |
1p36 |
|
P187-HPE |
Holoprosencephaly (HPE) |
PTCH, SHH, ZIC2, SIX3, TGIF TMEM1, FBXW11 |
|
P188-22q13 |
Phelan-Mcdermid syndrome, Telomeric monosomy 22q13.3 |
22q13.3, SHANK3, ACR, RABL2B |
|
P189-CDKL5 |
Rett syndrome, atypical |
CDKL5 Xp22, NTNG1 1p13.3, ARX Xp21.3 |
|
P208-Human Telomere-6 |
Subtelomeric testing |
2p, 3p, 6p, 8p |
|
P230-Human Telomere-7 |
Subtelomeric testing |
9p, 10p, 11p, 12p |
|
P233-MID1 |
OPITZ syndrome |
MID1 Xp22 |
|
P245-Microdeletion Syndromes1A CE |
Microdeletion syndromes |
Various |
|
P249-Human Telomere-8 |
Subtelomeric testing |
17p, 18p, 19p, 20p |
|
P250-DiGeorge CE |
DiGeorge syndrome |
22q11 |
|
P259-RPS6KA3 |
Coffin-Lowry Syndrome (CLS) |
RPS6KA3, PQBP1. |
|
P267-Dandy-Walker |
Dandy-Walker Malformation (DWM) |
ZIC1, ZIC4 3p2, VLDLR 9p24 |
|
P275-MAPT-GRN |
Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration, progressive supranuclear palsy |
MAPT 17q21 |
|
P277-Human Telomere-10 |
Subtelomeric testing |
5q, 6q, 7q, 8q |
|
P286-Human Telomere-11 |
Subtelomeric testing |
9q, 10q, 11q, 12q |
|
P290-Prenatal |
Prenatal microdeletion testing |
Various |
|
P291-Human Telomere-12 |
Subtelomeric testing |
13q, 14q, 15q, 16q |
|
P297-Microdeletion-2 |
Microdeletion syndromes |
Various |
|
P313-CREBBP |
Rubinstein–Taybi syndrome (RSTS) |
CREBBP 16p13.3 |
|
P320-Human Telomere-13 |
Subtelomeric testing |
17q, 18q, 19q, 20q. |
|
P321-VPS13B mix 1 |
Cohen syndrome |
VPS13B 8q22 |
|
P322-VPS13B mix 2 |
Cohen syndrome |
VPS13B 8q22 |
|
P325-OCA2 |
oculocutaneous albinism |
OCA2 15q12; TYR 11q14.3 |
|
P326-LARGE |
Walker-Warburg Syndrome |
LARGE, FKTN, POMT2 |
|
P330-PCDH19 |
Epilepsy (EFMR) |
PCDH19 |
|
P333-EP300 |
Rubinstein–Taybi syndrome (RSTS) |
EP300; 22q13.2 |
|
P336-UBE3A |
Angelman |
UBE3A, MTHFR, GABRB3 |
|
P337-TSC2 |
Tuberous sclerosis |
TSC2 gene, 16p13.3 |
|
P339-SHANK3 |
Autism Spectrum Disorder |
SHANK3 22q13.33 |
|
P343-Autism-1 |
Autism |
15q11-13: UBE3A, GABRB3; 16p11; SHANK3 22q13 |
|
P355-Microcephaly |
Primary Microcephaly |
MCPH1, ASPM, CDK5RAP2, CENPJ, STIL |
|
P356-Chromosome 22q |
Subtelomeric testing |
22q11, 22q13 |
|
P358-Human Telomere-15 |
Subtelomeric testing |
4p, 5p telomeres and 13q,14q centromere regions |
|
P365-Human Telomere-14 |
Subtelomeric testing |
7p, 15q-cen, 16p, 21q-cen, 21q |
|
P369-Smith-Magenis |
Smith-Magenis syndrome |
17p11.2 |
|
P371-Microdeletion-5 |
Microdeletion follow-up |
2p16, Langer Giedion, 9q22, WAGR, 15q24, 17q21 |
|
P372-Microdeletion-6 |
Microdeletion follow-up |
Sotos, DiGeorge, Rubinstein-Taybi, NF1 |
|
P373-Microdeletion-7 |
Microdeletion follow-up |
1p36, 3q29, Wolf-Hirschhorn, Cri du Chat, Phelan-McDermid |
|
P374-Microdeletion-8 |
Microdeletion follow-up: 7q11, PWS/AS, Miller-Dieker, Smith-Magenis, RETT |
7q11, PWS/AS, Miller-Dieker, Smith-Magenis, RETT |
|
P379-NRXN1 |
Pitt-Hopkins-like syndrome 2 |
NRXN1 |
|
P388-AGS |
Aicardi-Goutieres Syndrome |
RNASEH2A, B & C genes, TREX1, SAMHD1 |
|
P389-MLL2 |
Kabuki syndrome |
MLL2 gene |
|
P395-MEF2C-FOXG1 |
mental retardation |
MEF2C 5q14.3, FOXG1 14q12 |
|
P398-CASK |
X-linked mental retardation and MICPCH |
CASK |
|
P410-GRIN2A GRIN2B |
epilepsy, mental retardation |
16p13.2 GRIN2A, 12p13.1 GRIN2B |
|
P426-Cystinuria |
Cystinuria |
SLC3A1, 2p12 and SLC7A9 |
|
P433-ARID1A-ARID1B |
Neuroblastoma, ovarian cancer + various other tumour types + mental retardation |
ARID1A, ARID1B |
|
P443-KANSL1 |
KANSL1 copy number |
17q21.31 |
|
P445-KDM6A |
Kabuki Syndrome Type 2 (KS2) |
Xp11.3 |
|
P457-DHCR7 |
Smith–Lemli–Opitz syndrome |
11q13 |
