Microdeletions
|
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 |
|
ME030-BWS/RSS |
Beckwith-Wiedemann Syndrome (BWS), Russell-Silver Syndrome (RSS) |
11p15 region, H19, IGF2, CDKN1C, KCNQ1 |
|
P015-MECP2 |
RETT syndrome |
MECP2, Xq28 |
|
P018-SHOX CE |
Idiopathic growth retardation |
SHOX-Xp22 |
|
P022 -PLP1 |
Pelizaeus-Merzbacher disease (PMD) |
PLP1 Xq22 |
|
P026-Sotos |
Sotos syndrome |
NSD1, 5q35 |
|
P029-WBS |
Williams-Beuren syndrome |
WBS criticial region 7q11.23 |
|
P033-CMT1 CE |
Charcot-Marie Tooth disease (CMT1), Hereditary Neuropathy with liability to Pressure Palsies (HNPP) |
CMT1/HNPP region, 17p12 |
|
P036-Subtelomeres Mix 1 CE |
Subtelomeric testing |
All subtelomeres |
|
P049-SLC6A8 - ABCD1 |
Creatine transporter, x-linked |
SLC6A8, Xq28 |
|
P054-FOXL2-TWIST1 |
Ophthalmogenetic anomalies |
FOXL2 , TWIST1, FOXC1, FOXC2, ATR, PITX2, GPR143 |
|
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 |
|
P080-Craniofacial |
Craniofacial disorders |
FGFRs, TWIST, MSX2, ALX4, RUNX2 |
|
P096-MR-2 |
Mental retardation, Wolf-Hirschhorn, Cri du Chat, Langer-Giedon, WAGR, Rubinstein-Taybi, Down, Kabuki |
Various |
|
P106-MRX |
Mental retardation, x-linked (XLMR) |
Chromosome X |
|
P122-NF1-area |
Neurofibromatosis |
NF1 17q11.2 |
|
P137-SCN1A |
Epilepsy |
SCN1A 2q24.3 |
|
P138-SLC2A1-STXBP1 |
Glut1 deficiency syndrome |
SLC2A1, STXBP1 |
|
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 |
|
P160-STS |
Steroid Sulfatase gene (STS) |
STS Xp22 |
|
P179-Limb-1 |
Limb malformations |
GLI3 7p14.1, HOXD13 2q31.1, ROR2 9q22.31 |
|
P184-JAG1 |
Alagille Syndrome (ALGS) |
JAG1 20p12.2 |
|
P185-Intersex |
Sex determination |
SOX9 17q24.3; NR5A1 9q33; WNT4 1p36.12; CXorf21 & NROB1 Xp21.2 |
|
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 |
|
P201-CHARGE |
CHARGE syndrome |
CHD7 8q12.2 |
|
P208-Human Telomere-6 |
Subtelomeric testing |
2p, 3p, 6p, 8p |
|
P219-PAX6 |
Ocular malformations, hereditary |
PAX6 11p13, SOX2 3q26, WT1, 11p13 |
|
P228-TRPS1-EXT1 |
Trichorhinophalangeal syndrome type I (TRPS1), Langer-Giedion syndrome (LGS) |
TRPS1, EXT1, 8q24 |
|
P230-Human Telomere-7 |
Subtelomeric testing |
9p, 10p, 11p, 12p |
|
P234-GATA3 - GATA4 |
Cardiac septal defects |
GATA4 8p23, GATA3 10p15 |
|
P245-Microdeletion Syndromes1A CE |
Microdeletion syndromes |
Various |
|
P249-Human Telomere-8 |
Subtelomeric testing |
17p, 18p, 19p, 20p |
|
P250-DiGeorge CE |
DiGeorge syndrome |
22q11 |
|
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 |
|
P289-LMX1B |
Nail patella syndrome (NPS) |
LMX1B 9q33 |
|
P290-Prenatal |
Prenatal microdeletion testing |
Various |
|
P291-Human Telomere-12 |
Subtelomeric testing |
13q, 14q, 15q, 16q |
|
P297-Microdeletion-2 |
Microdeletion syndromes |
Various |
|
P304-IRF6-GRHL3 |
Van der Woude syndrome (VWS) |
IRF6, 1q32.2; GRHL3 1p36.11 |
|
P313-CREBBP |
Rubinstein–Taybi syndrome (RSTS) |
CREBBP 16p13.3 |
|
P320-Human Telomere-13 |
Subtelomeric testing |
17q, 18q, 19q, 20q. |
|
P333-EP300 |
Rubinstein–Taybi syndrome (RSTS) |
EP300; 22q13.2 |
|
P336-UBE3A |
Angelman |
UBE3A, MTHFR, GABRB3 |
|
P339-SHANK3 |
Autism Spectrum Disorder |
SHANK3 22q13.33 |
|
P343-Autism-1 |
Autism |
15q11-13: UBE3A, GABRB3; 16p11; SHANK3 22q13 |
|
P356-Chromosome 22q |
Subtelomeric testing |
22q11, 22q13 |
|
P358-Human Telomere-15 |
Subtelomeric testing |
4p, 5p telomeres and 13q,14q centromere regions |
|
P360-Y-Chromosome (basic research) |
Y-Chromosome Microdeletions |
Chromosome Y |
|
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 |
|
P387-NPHP1 |
Nephronophthisis 1 |
NPHP1 2q13 |
|
P395-MEF2C-FOXG1 |
mental retardation |
MEF2C 5q14.3, FOXG1 14q12 |
|
P405-CMT1 CE |
Charcot Marie Tooth Disease |
CMT/HNPP region at 17p12 |
|
P426-Cystinuria |
Cystinuria |
SLC3A1, 2p12 and SLC7A9 |
|
P431-FOXF1 |
Alveolar capillary dysplasia |
2p24.3 (MYCN) and 16q24.1 (FOXF1; FOXC2; FOXL1) |
|
P443-KANSL1 |
KANSL1 copy number |
17q21.31 |
