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Diseases Assayed on ACCUArray™

Syndromes & Diseases Assayed on Human ACCUArray™ CGH Platform

Our Human ACCUArray™ offers unparalleled coverage with over 19,000 RPCI BAC clones providing near-tiling resolution through the entire genome. The list below contains many known syndromes and recently discovered genetic conditions which are covered on our ACCUArray™ platform. Click on a syndrome or condition to view more information and useful links, including references to the OMIM database.

You can download a printable PDF version of this list by clicking here.

10q22.3-q23.31 Microdeletion

12q14.1-q15 Microdeletion

12q24.21-q24.23 Microduplication

14q22-q23 Microdeletion

15q24.1-q24.3 Microdeletion

16p11.2-p12.2 Microdeletion/ Microduplication

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

16p13.3 Microdeletion/Severe Rubinstein-Taybi

17q21.3 Microdeletion

1q21.1 Microdeletion with susceptibility for thrombocytopenia-absent radius (TAR)

1q41-q42 Microdeletion/Fryns

22q11.2 Duplication

22q13.3 Microdeletion

2p15-p16.1 Microdeletion

2q32.2-q33 Microdeletion

3q29 Microdeletion

5q Syndrome/ 5q Deletion Syndrome

6p25.3 Microdeletion

7q11.23 Duplication

8p23.1 Microdeletion/Microduplication

9q22.32-q22.33 Microdeletion

9q34 Microdeletion

Adrenal hypoplasia congenita/Dosage sensitive sex reversal

Adult-onset autosomal dominant leukodystrophy (ADLD) * (FISH)

Albright hereditary osteodystrophy-like syndrome/Brachydactyly-MR

Alpha thalassemia mental retardation (OS)

Alzheimer disease, early onset with cerebral amyloid angiopathy (FISH)

AMME Complex/ Alport Syndrome

Angleman Syndrome (AS) (duplications or deletions)

Atrial septal defect (ASD) with atrioventricular conduction defects

Autistic Features

Azoospermia / Oligozoospermia

Bartter 3 (classic)

Bartter 4 (infantile with sensorineural deafness)

Bartter with autosomal dominant hypocalcemia

Basal cell nevus Synrome / BCNS

Beckwith-Wiedemann Syndrome (BWS)

Bilateral frontoparietal polymicrogyria

Blepharophimosis, ptosis, epicanthus inversus (BPES)

Brachydactyl-Mental Retardation Syndrome/ BDMR/ Albright Hereditart Osteodystrophy-like syndrome/ AHO3

Branchio-Oto-Renal (BOR)/Melnick-Fraser/ Oto-Facio-Cervical (OFC)

BRCA2 Deletion - frequently deleted in prostrate/ breast cancer

Bruton agammaglobulinemia tyrosine

Burton Agammaglobulinemia Tyrosine Kinase (BTK) / Agammaglobulinemia Tyrosine Kinase (ATK) / B-Cell Progenitor Kinase (BPK)

Buschke-Ollendorff Syndrome/ BOS/ Dermatoosteropoikilosis

Campomelic dysplasia (CMPD)

CDKN2B/ CDKN2A - frequently mutated and deleted in a wide variety of tumors

Cerebellar Hypoplasia, VLDLR-Associated/ VLDRLR CH / Dysequilibrium Syndrome/ DES

Charcot-Marie-Tooth disease type 1A (duplication)

Chromosome 22q13.3 Deletion Syndrome / Telomeric 22q13 Monosomy Syndrome

Chromsome 18q Deletion Syndome/ De Grouchy Syndrome

Cleidocranial dysplasia (CCD)

Congenital adrenal hyperplasia (CAH)

Congenital diaphragmatic hernia (CDH)

Congenital diaphragmatic hernia (CDH) 2

Corneila de Lange Syndrome / CDL

Cyclin-Dependent Kinase Inhibitor 2B (CDKN2B)/ Cyclin-Dependent Kinase Inhibitor 2A (CDKN2A)

Dandy-Walker malformation (DWM)

Dent Disease 1 / Hypercalciuria Nephrolithiasis X-Linked

Diffuse Leiomyomatosis with Alport Syndrome (DL-ATS) / Leiomyomatosis

DiGeorge / Velocardiofacial (VCF) / CATCH-22

DiGeorge/Velocardiofacial (VCF)

Dosage sensitive sex reversal (duplication)

Down (Downs) Syndrome

Down (Downs) syndrome critical region (DSCR) *

Duane Retraction Syndrome 1 / DURS1/ DRS/ DUS

Duchenne Muscular Dystrophy (DMD)/ Berker Type Muscular Dystrophy (BMD)

Familial adenomatous polyposis (FAP) / Adenomatous Polyposis of the Colon (APC) / Gardner Syndrome (GS)

FMR1 Microdeletion

Glycerol kinase deficiency

Glycerol Kinase Deficiency / Hyperglycerolemia

Greig cephalopolysyndactyly

Holoprosencephaly 1

Holoprosencephaly 3

Holoprosencephaly 5

Holoprosencephaly 6

Holoprosencephaly 8

Holoprosencephaly and preaxial polydactyly *

Hypodontia, Autosomal Dominanat (HYD1)

Hypoparathyroidism, sensorineural deafness, renal disease (HDR)

Hypotonia-Cyctinura Syndrome/ Homozygous 2p21 Delection Syndrome

Iris Hypoplasia / Rieger anomaly (RA) / Axenfeld anomaly (AA) / with Glaucoma (duplication or deletion)

Jacobsen 11q terminal deletion disorder / 11q Deletion Syndrome / Partial 11q Monosomy Syndrome

Joubert 4/ Nephronophthisis 1

Joubert Syndrome 4

Kallmann's Syndrome 1 / KAL1

Klinefelters, XXY

Leri-Weill dyschondrosteosis/Langer mesomelic dysplasia (OS)

Lissencephaly with cerebellar hypoplasia

Loeys-Dietz (LDS)

Loeys-Dietz (LDS)/Marfan 2 (MFS2)

Lymphoproliferative Syndrome, X-Linked / XLP / XLPD / LYP / Duncan Disease

Madelung Deformity / Leri-Weill dyschond -rosteosis/ Idiopathic short stature / Dyschondrosterosis (DCO)

Medulloblastoma/ MDB

Microphthalmia 3

Microphthalmia 7 with linear skin defects

Miller-Dieker/Lissencephaly 1

Monosomy 1p36 Microdeletion

Monosomy 9p Syndrome

Multiple Exostoses, type II/ EXT2

Nablus mask-like facial

Nephronophthisis 1 (NPHP1) / Nephronophthisis, familial juvenile / NPH1

Neurofibromatosis 1/MR

Neurofibromatosis 2

Neuropathy / HNPP / Familial Recurrent Polyneuropathy / Tomaculous Neuropathy

NFIA Haploinsufficiency

Noonan 1 Syndrome / NS1

Oculocutaneous Albinism Type 1

Oculocutaneous Albinism Type 2

Ornithine transcarbamylase deficiency

Orofaciodigital 1

Pallister-Killian

Parietal Foramina 1 (PFM1) / Foramina Parietalia Permagna (FPP)

Parietal Foramina 2 ( PRM2)

Pelizaeus-Merzbacher

Polycystic kidney disease (OS) / PKD1

Potocki-Shaffer Syndrome/ PSS / Chromosome 11p11.2 Deletion Syndrome

Prader-Willi Syndrome(PWS) (duplications or deletions)

Prader-Willi-like phenotype

Renal cysts and diabetes (RCAD)

Retinoblastoma/ MR / RB / RB1

Rett Syndrome/ MECP2 male duplication

Rieger Syndrome Type 1 / RIEG1 / RIEG / RGS

Rubenstein-Taybi (Rubinstein)

Sacral Agenesis / Currarino Syndrome

Saethre-Chotzen Sydrome (SCS)

Schizophrenia 4 (SCZD4)

Sertoli cell-only sydrome

Severe myoclonic epilepsy of infancy (SMEI)

Sex reversal, autosomal dominant 2

Short stature, pituitary and cerebellar defects, & small sella turcica

Small cell cancer of the lung / SCLC1 / SCLS / SCCL

Smith-Lemli-Opitz

Smith-Magenis Syndrome (SMS)

Sotos / Cerebral Gigantism

Split-Hand/Foot Malformation 1 (SHFM1)

Split-Hand/Foot Malformation 3 (SHFM3)

Split-Hand/Foot Malformation 4 (SHFM 4)

Split-Hand/Foot Malformation 5 (SHFM 5)

SRY deletion (OS)

Steroid sulfatase deficiency

Swyer Syndrome / SRY / XY Gonadal Dysgenesis (deletions or duplications)

Synpolydactyly / SPD / Syndactyly II

Thyroid Hormone Resistance / Thyroid Hormone Unresponsiveness / Refetoff Syndrome

Trichorhinophalangeal 1

Trichorhinophalangeal syndrome Type2 / Langer-Giedion Syndrome / LGS

Tuberous sclerosis 2 (OS)

Turner Syndrome, X

Van Buchem Disease (VBCH)

Van der Woude Syndrome

Vascular endothelial growth factor (VEGFA)-related disorders

Velocardiofacial

Von Hippel-Lindau Syndrome / VHL

Waardenburg syndrome IIA

Williams-Beuren

Wilms Tumor 1 / WT1 / Nephroblastoma

Wolf-Hirschhorn (WHS)

X-linked agammaglobulinemia

X-linked heterotaxy

X-linked infantile spasms

X-linked juvenile retinoschisis

X-linked lissencephaly

X-linked lymphoproliferative syndrome (XLP)

X-linked mental retardation 21

X-linked mental retardation 30

X-linked mental retardation 54/X-linked lissencephaly with ambiguous genitalia/X-linked infantile spasms

X-linked mental retardation with isolated growth hormone deficiency

Xp11.3 Microdeletion

XY Sex-reversal, +/- adrenal failure

17p11.2 Duplication Syndrome