Citogenetica metodologias

NimbleGen CGX Cytogenetics Solution TranslatingDataintoMeaning

RocheNimbleGenandSignatureGenomicLaboratories

Expertise you can depend on As a leading provider of genetic research tools, Roche NimbleGen provides a comprehensive suite of microarray solutions that help researchers to unravel and understand the structure and make-up of the genome. Through partnership with Signature Genomics, who pioneered the “genotype-first” approach to cytogenetics, Roche NimbleGen has developed a suite of NimbleGen CGX Cytogenetics arrays with a comprehensive workflow solution that delivers a new standard for molecular cytogenetic analysis.

As a leader in the cytogenetics industry, Signature Genomics has established many of the methodologies that are now the standard for microarray analysis. In 2004, the company became the first to provide commercially viable microarray testing and analysis to the research services market. As a leader in array-based Comparative Genomic Hybridization (array CGH) for analysis of chromosomal abnormalities, Signature provides its clients with the expertise to understand and interpret complex genomic research studies.

The combination of NimbleGen CGX Cytogenetics array workflow and Signature Genomics’ experience, knowledge, service and support in handling over 40,000 samples to date offers an integrated and complete solution for cytogenetic analysis. Together, we provide you with real and meaningful answers in your research. Additionally, the results of these studies have been incorporated into a proprietary database from Signature Genomics, Genoglyphix®. It allows researchers secure online access from around the world to analyze and understand the meaning of genetic alteration and its impact on disease.

Asoneofthepioneersinthefieldofmolecularcytogeneticanalysis,wecontinuouslyworktowardinnovationanddevelopmentofcutting-edgetechnologiestoimprovehumanhealth.ThroughpartnershipwithRocheanduseoftheNimbleGenmicroarraytechnology,weaimtoshareourexperienceandexpertisewiththeglobalcytogeneticscommunityandsignificantlyadvancethefieldofcytogenetics.

Lisa ShafferPresident and CEOSignature Genomic Laboratories

For life science research only. Not for use in diagnostic procedures.2 |

DiscoverMorewithCGXCytogeneticsArrays

Roche NimbleGen has developed CGX Cytogenetics arrays with the design from Signature Genomics to take advantage of array CGH methods. NimbleGen CGX Cytogenetics arrays offer a single proven design across array formats, one complete workflow solution, and scalability, all from a company known for life science innovation.

One Complete SolutionFrom sample prep to data analysis, the complete cytogenetic workflow solution

Roche Technical SupportThe support your research requires, from a

company committed to supporting and advancing cytogenetics

ScalabilityMultiple array formats with a single

design provide scalability for your analysis needs

One Proven DesignA single proven cytogenetic design; designed by cytogeneticists for cytogeneticists

NimbleGen CGX Cytogenetics arrays offer multiple advantages for your high resolution chromosomal analysis needs over conventional methods:

• Higher resolution for more sensitive detection of small aberrations

• Easily scalable with high potential for automation • Simple, fast, and less labor intensive workflow

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Time: 5 hours (2 - 3 hours hands on)

Time: Order a catalog array with delivery in a matter of days

Based on analysis of over 40,000 cytogenetic samples, NimbleGen CGX Cytogenetic arrays comprehensively cover cytogenetically relevant regions:

Over 200 cytogenetic disease-associated regions

More than 675 functionally significant genes

Comprehensive, high resolution coverage of telomeric and pericentromeric regions

Full coverage of pseudoautosomal regions

Complete whole-genome backbone coverage

Same design in all three array formats (CGX-3, CGX-6, CGX-12) provides scalability

across platforms while minimizing validation requirements

DiscovertheRocheNimbleGenDifference:

Label your unfragmented DNA samples with the NimbleGen Dual-Color DNA Labeling Kit to ensure high-quality and accurate data:

Functionally validated components provide consistent yields and labeling efficiency for maximum accuracy

CGX-6 and CGX-12 arrays contain positive control probes for monitoring workflow success

Sample Preparation and LabelingNimbleGen CGX Arrays

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Time: ~40 hours (<2 hours hands on)

Time: 20 minutes per slide at 2µm resolution

(<5 - 20 minutes hands on)

Time: 20 - 60 minutes per sample

CytogeneticsWorkflowSolution EnsuresOptimalResearchResults

Extract and analyze array data with NimbleScan and Genoglyphix Software:

Extract raw array with NimbleScan Software

Generate Experimental Metrics Report to assess quality of microarray data

Perform quality control and in-depth analysis with Genoglyphix Software

Scan at high resolution with the NimbleGen MS 200 Microarray Scanner:

Maximum throughput of up to 576 samples (on CGX-12 array) with the 48-slide autoloader

Ozone mitigation system helps reduce signal degradation of dyes on arrays

Advanced autofocus and autogain help provide consistent, optimal results

Hybridize in a NimbleGen Hybridization System for reliable and reproducible data. Robust hybridization systems allow you to focus on your experiment:

Active mixing promotes uniform hybridization across the array

Scalable system allows for batches of up to 144 samples to meet your experimental throughput needs

Hybridization Scanning Data Extraction and Analysis

Contact Roche Microarray Technical Support: www.nimblegen.com/arraysupport | 5

p Figure 1: Data visualization in Genoglyphix.

A powerful data visualization software and database based on the analysis of over 40,000 cytogenetic samples (and still growing), Genoglyphix turns complexity into meaning. Designed and used by cytogeneticists, Genoglyphix offers a proven analysis

solution with an intuitive and complete workflow including sample tracking, alteration categorization and summary features, data management, data sharing with other Genoglyphix users and much, much more.

Genoglyphix:Turning40,000SamplesintoMeaning;

t Graphical representation of aberration

t Genes aligned by genomic coordinates with links to OMIM, PubMed, and the UCSC databases

t Identify BAC clones

t Database of Genomic Variants

t Signature Genomics database of over 10,000 aberrations

t Track your own samples in MyGCAD

t Genes listed in the RefSeq Database

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p Figure 2: Various chromosomes shown in Genoglyphix. Example CGX-3 data shown in Genoglyphix Software. Top track: A 26.2 Mb deletion on chromosome 5p. Middle track: A 6.3 Mb deletion on chromosome 10q. Bottom track: A 9.1 Mb duplication on chromosome 8p.

Genoglyphix sets a new standard for array-based cytogenetics analysis. Developed by Signature Genomics and available for exclusive use with NimbleGen CGX arrays, Genoglyphix genome browser software provides intuitive data visualization and annotation features for streamlined and rapid analysis of CGX data.

Genoglyphix – Bringing multiple genetic databases into one tool

A database of over 10,000 genetic alterations identified in over 40,000 samples

Links to the Database of Genomic Variants

Known Genes compiled with information from databases such as OMIM, PubMed, UCSC, DGV, Ensembl

Secure web-based (128-bit encryption) access to Genoglyphix database and software

Genoglyphix easily guides cytogeneticists through analysis with convenient tools such as:

Generate user-defined databases with MyGCAD and add custom tracks such as abnormal results, copy number variants, and analysis notes

User-definable reporting features

Easy-to-use workflow: sample tracking, alteration categorization, summary features, and data management.

Optional sharing of data with other Genoglyphix users

DesignedbyCytogeneticists,forCytogeneticists

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SameProvenDesignAcrossCGXArrays...

The NimbleGen Cytogenetics CGX arrays offer high-resolution coverage of the entire human genome, with a subset of probes specifically targeted to disease associated regions including microdeletion/duplication, subtelomeric and pericentromeric regions. Combined with the reagents, instruments, and analysis software, these arrays provide a complete solution for your cytogenetic experiments.

The data shown here demonstrates the high sensitivity and reproducibility achieved with all three array formats using representative research samples. Deletions and amplifications are reproducibly detected across array formats (Figure 3). Additionally, the high sensitivity of the CGX arrays allows detection of aberrations down to 20% mosaicism (Figure 4). The same array content and design across all three platforms provides the flexibility to quickly and easily scale your research from 3 to 6 to 12 samples per slide based on your sample throughput needs.

To ensure consistently high data quality, the CGX arrays contain positive control probes for monitoring workflow success. When used with the NimbleGen Labeling and Hybridization Control Kit, the control probes ensures consistency in your workflow and reliability of your results.

p Figure 3: Reproducible detection of a deletion with NimbleGen CGX arrays. (Example CGX data shown in Genoglyphix Software.) The 16 Mb deletion (shown in blue boxes) is accurately detected on all CGX arrays, providing a scalable solution depending on required sample throughput. As each array format contains the same design, CGX analysis is identical for all arrays.

p Figure 4: Example CGX-12 data shown in Genoglyphix Software. A simulated mosaic titration series of a trisomy 21 sample was analyzed with CGX-12 arrays. The mosaic aberration is detected down to the 20% level (shown in magenta boxes).

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Instruments Cat. No.

NimbleGen Hybridization System 4 (110V) 05 223 652 001




NimbleGen Microarray Dryer (110V) 05 223 636 001

NimbleGen Microarray Dryer (220V) 05 223 644 001

NimbleGen MS 200 Microarray Scanner 05 394 341 001

Software Cat. No.

NimbleScan Software – Individual License 05 933 315 001

NimbleScan Software – Site License 05 933 331 001

SignalMap Software – Individual License 05 225 051 001

Genoglyphix Software – Site License 05 852 307 001

Genoglyphix Software – Site License Renewal 05 852 323 001

NimbleGen Arrays Cat. No. Pack Size

NimbleGen CGX-3 Array 05 986 834 001 2 slides

05 947 987 001 4 slides

NimbleGen CGX-6 Array 05 986 885 001 1 slide

05 948 193 001 4 slides

NimbleGen CGX-12 Array 05 986 869 001 1 slide

05 947 995 001 2 slides

05 948 002 001 4 slides

Ordering Information

Reagents Cat. No.

NimbleGen Labeling and Hybridization Control Kit 05 993 776 001

NimbleGen Dual-Color DNA Labeling Kit 05 223 547 001

NimbleGen Hybridization Kit 05 583 683 001

NimbleGen Hybridization Kit, LS 05 583 934 001

NimbleGen Wash Buffer Kit 05 584 507 001

NimbleGen Array Processing Accessories 05 223 539 001

NimbleGen Sample Tracking Control Kit 05 223 512 001

FromtheCompleteCytogeneticsSolution

Advantages of CGX Cytogenetics Arrays

Conventional Methods CGX Arrays

Increased Detection Rate 4% 20%

Resolution 5 – 10 Mb Tunable; less than 50 Kb in targeted regions

Protocol Labor intensive; requires cell cultureEasy-to-use, less time and less labor intensive direct labeling of genomic DNA

Turnaround Time 4 – 10 days 3 - 4 days (dependent on array format and lab workflow)

Scalability Not easily scalable or automatedScalable across all three array platforms; high potential for automation

The CGX arrays offer significant advantages over conventional methods, such as karyotype and FISH, for analysis of chromosomal copy number changes. Our CGX arrays provide genome-wide analysis in a single assay at a resolution not achievable by previous methods, and has enabled the discovery of novel microdeletion and microduplication syndromes previously unrecognized using lower-resolution technologies.

In addition, when compared with traditional methods, CGX arrays are easier to use, require less time, and are amenable to automation. For these reasons, CGX arrays have rapidly emerged as a method of choice for molecular cytogenetic analysis of chromosomal abnormalities underpinning human diseases such as constitutional or developmental disorders.

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Targeted Regions OMIM Locus Band(s)

1p36 Microdeletion 607872 Multiple 1p36

1q21.1 Microdeletion with susceptibility for thrombocytopeniaabsent radius (TAR)

274000 Multiple 1q21.1

1q21.1 Microdeletion with susceptibility to mental retardation, autism, or congenital anomalies

612474 Multiple, ACP6 candidate,GJA5 candidate, GJA8 candidate

1q21.1

1q41-q42 Microdeletion Multiple, DISP1 candidate 1q41

1q44 Microdeletion Multiple, AKT3 candidate 1q44

2p15-p16.1 Microdeletion Multiple 2p15-p16.1

2p21 Microdeletion, homozygous 606407 Multiple 2p21

2q32.2-q33 Microdeletion 119540 Multiple, SATB2 candidate 2q33.1

3q29 Microdeletion 609425 Multiple 3q29

6p25.3 Microdeletion Multiple 6p25.3

6q24.3 Microdeletion Multiple 6q24.3

7q11.23 Microduplication 609757 Multiple 7q11.23

8p23.1 Microdeletion Multiple, GATA4 candidate 8p23.1

9q22.32-q22.33 Microdeletion Multiple, TGFBR1 candidate

9q22.33

9q34 Microdeletion 610253 Multiple, EHMT1 candidate 9q34.3

10q22.3-q23.31 Microdeletion Multiple 10q22.3-q23.31

12q14.1-q15 Microdeletion Multiple, LEMD3 candidate, GRIP1 candidate

12q14.3

12q24.21-q24.23 Microduplication Multiple 12q24.21-q24.23

14q11.2 Microdeletion Multiple, CHD8 candidate, SUPT164 candidate

14q11.2

14q22-q23 Microdeletion 600037 Multiple 14q22-q23

15q11-q13 Microduplication 608636 Multiple 15q11-q13

15q13.3 Microdeletion 612001 Multiple, CHRNA7 candidate

15q13.3

15q24.1-q24.3 Microdeletion Multiple 15q24.1-q24.3

16p11.2 Microdeletion 611913 Multiple 16p11.2

16p11.2-p12.2 Microdeletion Multiple 16p11.2-p12.2

16p13.1 Microdeletion predisposing to autism and/or mental retardation

Multiple 16p13.1

16p13.3 Microdeletion/Severe Rubinstein-Taybi 610543 CREBBP, DNASE1 16p13.3

16q11.2-q12.2 Microdeletion Multiple, SALL1 candidate, ZNF423 candidate

16q11.2-q12.2

17q21.3 Microdeletion 610443 Multiple, MAPT candidate 17q21.3

22q11.2 Distal microdeletion 611867 Multiple 22q11.2

22q11.21 Microduplication 608363 Multiple, TBX1 candidate 22q11.21

22q13.3 Microdeletion 606232 Multiple, ARSA candidate, SHANK3 candidate

22q13.3

Xp11.22-linked mental retardation Multiple, HSD17B10 candidate, HUWE1 candidate

Xp11.22

Xp11.3 Microdeletion 300578 Multiple, RP2 candidate, ZNF674 candidate

Xp11.3

Xp11.4-p21.2 Contiguous gene deletion Multiple, IL1RAPL, OTC Xp11.4-p21.2

Adrenal hypoplasia congenita (AHC) 300200 NR0B1 Xp21.2

Alagille 118450 JAG1 20p12.2

Albright hereditary osteodystrophylike/Brachydactyly-MR

600430 Multiple 2q37.3

Alpha thalassemia mental retardation (ATR-16) 141750 HBA1, HBA2 16p13.3

Androgen insensitivity 300068 AR Xq12

Angelman 105830 UBE3A 15q11.2

Aniridia II 106210 PAX6 11p13

Atrial septal defect (ASD) withatrioventricular conduction defects

108900 NKX2-5 5q35.2

Bannayan-Riley-Ruvalcaba (BRRS) 153480 PTEN 10q23.31

Bartter, antenatal 1 601678 SLC12A1 15q21.1

Bartter, antenatal 2 241200 KCNJ1 11q24.3

Bartter 3 (classic) 607364 CLCNKB 1p36.13

Bartter 4 (infantile with sensorineural deafness) 602522 BSND, CLCNKA & CLCNKB 1p32.3, 1p36.13

Basal cell nevus/Gorlin-Goltz 109400 PTCH1 9q22.32

Beckwith-Wiedemann, IGF2-related 130650 IGF2 11p15.5

Beckwith-Wiedemann, KCNQ1OT1-related 130650 KCNQ1OT1 11p15.5

Benign neonatal epilepsy 121200 KCNQ2 20q13.33


Bilateral frontoparietal polymicrogyria (BFPP) 606854 GPR56 16q13

Blepharophimosis, ptosis, epicanthus inversus (BPE)

110100 FOXL2 3q22.3

Boston-type craniosynostosis 604757 MSX2 5q35.2

Branchio-oto-renal (BOR)/Melnick-Fraser 113650 EYA1 8q13.3

Buschke-Ollendorff 166700 LEMD3 12q14.3

Campomelic dysplasia (CMPD) 114290 SOX9 17q24.3

Cat-eye 115470 Multiple 22q11.1

Cerebellar hypoplasia, VLDLR-related/Hutterite dysequilibrium

224050 VLDLR 9p24.2

Cerebral cavernous malformations, type 1 (CCM1)

116860 KRIT1 7q21.2


603284 CCM2 7p13


603285 PDCD10 3q26.1

CHARGE 214800 CHD7 8q12.2

Choroideremia 303100 CHM Xq21.2

Cleidocranial dysplasia (CCD) 119600 RUNX2 6p12.3

Congenital deafness with inner ear agenesis, microtia, & microdontia

610706 FGF3 11q13.3

Congenital diaphragmatic hernia (CDH) 142340 CHD2, NR2F2 15q26.1, 15q26.2

Congenital diaphragmatic hernia 2 (CDH2) 222400 GATA4 candidate 8p23.1

Cornelia de Lange 122470 NIPBL 5p13.2

Cowden 158350 PTEN 10q23.31

Craniofrontonasal 304110 EFNB1 Xq13.1

Cri-du-Chat 123450 Multiple 5p15.2

Currarino 176450 MNX1 7q36.3

Dandy-Walker malformation (DWM) 220200 ZIC1, ZIC4 3q24

DiGeorge/Velocardiofacial (VCF) 188400 HIRA, TBX1 22q11.21

DiGeorge 2 601362 Multiple 10p14

Dosage-sensitive sex reversal 300018 NR0B1 Xp21.2

Down syndrome critical region (DSCR) 602917 Multiple 21q22.13

Familial adenomatous polyposis (FAP)/Gardner/MR

175100 APC 5q22.2

Familial hypocalciuric hypercalcemia 1 (HHC1) 145980 CASR 3q21.1

Feingold 164280 MYCN 2p24.3

FG 5 300581 MID2 Xq22.3

FMR1 Microdeletion 300624 FMR1 Xq27.3

Focal dermal hypoplasia/Goltz 305600 PORCN Xp11.23

Fryns 229850 DISP1 candidate 1q41

Generalized epilepsy with febrile seizures plus 2 (GEFS+2)

604233 SCN1A 2q24.3

Gitelman 263800 SLC12A3 16q13

Glycerol kinase deficiency (GKD) 300474 GK Xp21.2

Greig cephalopolysyndactyly 175700 GLI3 7p14.1

Hemophilia A 306700 F8 Xq28

Hemophilia B 306900 F9 Xq27.1

Hereditary hemorrhagic telangiectasia, type 2 600376 ACVRL1 12q13.13

Holoprosencephaly 1 236100 TRAPPC10 21q22.3

Holoprosencephaly 2 157170 SIX3 2p21

Holoprosencephaly 3 142945 SHH 7q36.3

Holoprosencephaly 4 142946 TGIF1 18p11.31

Holoprosencephaly 5 609637 ZIC2 13q32.3

Holoprosencephaly 6 605934 Multiple 2q37.1-q37.3

Holoprosencephaly 7 610828 PTCH1 9q22.32

Holoprosencephaly 8 609408 Multiple 14q13.1-q13.2

Holoprosencephaly and preaxial polydactyly 605651 FBXW11 5q35.1

Holt-Oram 142900 TBX5 12q24.21

Hypoparathyroidism, sensorineural deafness, renal disease (HDR)

146255 GATA3 10p14

Hypotonia-cystinuria 606407 SLC3A1, PREPL 2p21

Infantile hyperinsulinism with enteropathy & deafness

606528 USH1C, ABCC8 11p15.1

Infantile spasms, MAGI2-related 606382 MAGI2 7q21.11

Jacobsen/11q terminal deletion disorder 147791 Multiple 11q23-11qter

Joubert 3 608629 AHI1 6q23.3

Joubert 4 609583 NPHP1 2q13

Genomic regions targeted byNimbleGen CGX Cytogenetic arrays:


Joubert 5 610188 CEP290 12q21.32

Juvenile polyposis (JPS), BMPR1A-related 174900 BMPR1A 10q23.2

Juvenile polyposis (JPS), SMAD4-related 174900 SMAD4 18q21.2

Kallmann 1 308700 KAL1 Xp22.31

Langer-Giedion 150230 TRPS1, EXT1 8q23.3, 8q24.11

Langer mesomelic dysplasia (LMD) 249700 SHOX Xpter-Xp22.3 &Ypter-Yp11.32

Leber congenital amaurosis X (LCAX) 611755 CEP290 12q21.32

Leri-Weill dyschondrosteosis (LWD) 127300 SHOX Xpter-Xp22.3 &Ypter-Yp11.32

Li-Fraumeni 1 (LFS) 151623 TP53 17p13.1

Lissencephaly 1 607432 PAFAH1B1 (LIS1) 17p13.3

Lissencephaly with cerebellar hypoplasia 257320 RELN 7q22.1

Loeys-Dietz (LDS), TGFBR1-related 609192 TGFBR1 9q22.33

Loeys-Dietz (LDS), TGFBR2-related 610168 TGFBR2 3p24.1

Lowe 309000 OCRL Xq25

Macrocephaly-autism 605309 PTEN 10q23.31

Marfan 1 (MFS1) 154700 FBN1 15q21.1

Marfan 2 (MFS2) 610380 TGFBR2 3p24.1

McLeod 314850 XK Xp21.1

Meckel 4 611134 CEP290 12q21.32

Menkes (MNK) 309400 ATP7A Xq21.1

Microphthalmia 3 206900 SOX2 3q26.33

Microphthalmia 7 with linear skin defects 309801 Multiple Xp22.2

Miller-Dieker 247200 PAFAH1B1 (LIS1) 17p13.3

Mohr-Tranebjaerg 304700 TIMM8A Xq22.1

Mowat-Wilson 235730 ZEB2 2q22.3

Myoclonus dystonia 159900 SGCE 7q21.3

Nablus mask-like facial 608156 Multiple 8q21.3-q22.1

Nail-patella (NPS) 161200 LMX1B 9q33.3

Neonatal severe primary hypoparathyroidism (NSHPT)

239200 CASR 3q21.1

Nephronophthisis 1 256100 NPHP1 2q13

Nephropathic cystinosis 219800 CTNS 17p13.3

Neurofibromatosis 1 (NF1)/MR 162200 NF1 17q11.2

Neurofibromatosis 2 (NF2) 101000 NF2 22q12.2

Neurosensory deafness, autosomalrecessive (DFNB1)

220290 GJB6 13q12.11

NFIA haploinsufficiency 600727 NFIA 1p31.3

Noonan 1 163950 PTPN11 12q24.13

Noonan 4 610733 SOS1 2p22.1

Norrie 310600 NDP Xp11.3

Oculocutaneous albinism 2 (OCA2) 203200 OCA2 15q13.1

Okihiro 607323 SALL4 20q13.2

Opitz 300000 MID1 Xp22.2

Ornithine transcarbamylase deficiency (OTC) 311250 OTC Xp11.4

Oro-facio-digital 1 (OFD1) 311200 OFD1 Xp22.2

Oto-dental 166750 FGF3 11q13.3

Oto-facio-cervical (OFC) 166780 EYA1 8q13.3

Pallister-Killian 601803 Multiple 12p

Parietal foramina 1 168500 MSX2 5q35.2

Pelizaeus-Merzbacher 312080 PLP1 Xq22.2

Peutz-Jeghers (PJS) 175200 STK11 19p13.3

Pitt-Hopkins 610954 TCF4 18q21.1

Polycystic kidney disease 1 (PKD1) 601313 PKD1 16p13.3

Potocki-Lupski/17p11.2 Microduplication 610883 Multiple 17p11.2

Potocki-Shaffer 601224 EXT2, ALX4 11p11.2

Prader-Willi (PWS) 176270 SNRPN 15q11.2

Prader-Willi-like phenotype 176270 SIM1 6q16.3

Proteus/Proteus-like 176920 PTEN 10q23.31

PTEN hamartoma tumor 158350 PTEN 10q23.31

Renal cysts and diabetes (RCAD) 137920 HNF1B 17q12

Retinoblastoma/MR 180200 RB1 13q14.2

Rieger 1 (RIEG1) 180500 PITX2 4q25

Rubinstein-Taybi (RTS) 180849 CREBBP 16p13.3


Saethre-Chotzen 101400 TWIST1 7p21.1

Schizencephaly 269160 EMX2 10q26.11

Senior-Loken 6 610189 CEP290 12q21.32

Severe myoclonic epilepsy of infancy (SMEI) 607208 SCN1A 2q24.3

Sex reversal, autosomal dominant 2 (SRA2) 154230 Multiple, DMRT1 candidate 9p24.3

Short stature, pituitary and cerebellar defects, small sella turcica

262700 LHX4 1q25.2

Simpson-Golabi-Behmel (SGBS) 312870 GPC3 Xq26.2

Smith-Lemli-Opitz (SLOS) 270400 DHCR7 11q13.4

Smith-Magenis (SMS) 182290 RAI1 17p11.2

Sotos 117550 NSD1 5q35.3

Speech & language disorder 1 602081 FOXP2 7q31.1

Split-hand/foot malformation 1 (SHFM1) 183600 SHFM1 7q21.3

Split-hand/foot malformation 3 (SHFM3) 600095 FBXW4 10q24.32

Split-hand/foot malformation 4 (SHFM4) 605289 TP63 3q28

Split-hand/foot malformation 5 (SHFM5) 606708 DLX1, DLX2 2q31.1

SRY dosage abnormalities 278850, 306100

SRY Yp11.31

Steroid sulfatase deficiency 308100 STS Xp22.31

Stickler I 108300 COL2A1 12q13.11

Synpolydactyly/Syndactyly II 186000 HOXD, gene cluster 2q31.1

Townes-Brocks 1 107480 SALL1 16q12.1

Trichorhinophalangeal 1 190350 TRPS1 8q23.3

Tuberous sclerosis 1 (TSC1) 191100 TSC1 9q34.13

Tuberous sclerosis 2 (TSC2) 191100 TSC2 16p13.3

Ulnar-mammary 181450 TBX3 12q24.21

Van der Woude 119300 IRF6 1q32.2

Vascular endothelial growth factor (VEGFA)-related disorders

192240 VEGFA 6p21.1

von Hippel-Lindau 193300 VHL 3p25.3

Waardenburg I 193500 PAX3 2q36.1

Waardenburg IIA 193510 MITF 3p14.1

WAGR 194072 PAX6, WT1 11p13

Walker-Warburg, LARGE-related 236670 LARGE 22q12.3

Williams-Beuren 194050 ELN 7q11.23

Wilms Tumor 1 194070 WT1 11p13

Wolf-Hirschhorn 194190 Multiple 4p16.3

X-linked agammaglobulinemia 300755 BTK Xq22.1

X-linked Alport (ATS) 301050 COL4A5 Xq22.3

X-linked Alport plus diffuseleiomyomatosis (ATS-DL)

301050 COL4A5, COL4A6 Xq22.3

X-linked chronic granulomatous disease 306400 CYBB Xp11.4

X-linked heterotaxy 306955 ZIC3 Xq26.3

X-linked hydrocephalus and nephrogenic diabetes insipidus

L1CAM, AVPR2 Xq28

X-linked idiopathic short stature (ISSX) 300582 SHOX Xpter-Xp22.3, Ypter-Yp11.32

X-linked infantile spasms, ARX-related 308350 ARX Xp21.3

X-linked infantile spasms, CDKL5-related 300672 CDKL5 Xp22.13

X-linked juvenile retinoschisis 312700 RS1 Xp22.13

X-linked lissencephaly 300067 DCX Xq22.3

X-linked lissencephaly with ambiguous genitalia

300215 ARX Xp21.3

X-linked lymphoproliferative (XLP) 308240 SH2D1A Xq25

X-linked mental retardation 21 300143 IL1RAPL1 Xp21.3

X-linked mental retardation 30 300558 PAK3 Xq22.3

X-linked mental retardation 54 300419 ARX Xp21.3

X-linked mental retardation with isolated growth hormone deficiency

300123 SOX3 Xq27.1

X-linked mental retardation with microcephaly & disproportionate pontine and cerebellar hypoplasia

300749 CASK Xp11.4

XX male 278850 SRY Yp11.31

XY gonadal dysgenesis 400044 SRY Yp11.31

XY sex-reversal, +/- adrenal failure 184757 NR5A1 9q33.3

All 41 unique subtelomeric regions Multiple 41 sites

All 43 unique pericentromeric regions/marker chromosomes

Multiple 43 sites

Aneuploidy for 24 chromosomes Multiple 24 chromo-somes

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For life science research only. Not for use in diagnostic procedures.

NIMBLEGEN is a trademark of Roche.GENOGLYPHIX and SIGNATURE GENOMICS are trademarks of Signature Genomic Laboratories, LLC.Other brands or product names are trademarks of their respective holders.

Published by:Roche Diagnostics GmbHRoche Applied ScienceWerk Penzberg82372 PenzbergGermany

www.roche-applied-science.com

© 2010 Roche Diagnostics GmbHAll rights reserved.

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