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Disorders Tested

Clinically recognized regions of the genome assayed by
SignatureChipOS™ and SignatureChipWG™


# | A | B | C | D | F | G | H | J | K | L | M | N | O | P | R | S | T | W | X

Disorders Tested OMIM# Locus Band(s)

* microduplication syndrome

■ Microdeletions or microduplications have been associated with this condition

□ Microdeletions or microduplications are rare or not yet associated with this condition

(FISH) available only through SignatureFISH™ testing

(M) multiple genes

(OS) based on clinical indication, SignatureChip OS™ oligonucleotide micoarray testing may yield better results

Information based on UCSC Genome Browser, March 2006 Assembly
■1p36 Microdeletion *607872(M)1p36
■1q21.1 Microdeletion with susceptibility for thrombocytopenia-absent radius (TAR) 274000(M)1q21.1
■1q41-q42 Microdeletion (M) DISP1 candidate1q41
■2p15-2p16.1 Microdeletion (M)2p15-p16.1
■2q32.2-q33 Microdeletion119540(M) SATB2 candidate2q33.1
■3q29 Microdeletion609425(M)3q29
■6p25.3 Microdeletion (M)6p25.3
■8p23.1 Microdeletion * (M) GATA4 candidate8p23.1
■9q22.32-q22.33 Microdeletion  (M) TGFBR1 candidate9q22.33
■9q34 Microdeletion*610253(M) EHMT1 candidate9q34.3
■10q22.3-q23.31 Microdeletion  (M)10q22.3-q23.31
■12q14.1-q15 Microdeletion *  (M) LEMD3 candidate
GRIP1 candidate		12q14.3
■12q24.21-12q24.23 Microduplication * (M)12q24.21-q24.23
■14q22-14q23 Microdeletion600037(M)14q21-14q22
■15q24.1-q24.3 Microdeletion  (M)15q24.1-q24.3
■16p11.2-p12.2 Microdeletion *  (M)16p11.2-p12.2
■16p13.1 Microdeletion predisposing to autism and/or mental retardation *  (M)16p13.1
■16p13.3 Microdeletion/Severe Rubinstein-Taybi 610543CREBBP DNASE1 16p13.3
■17q21.3 Microdeletion *610443(M) MAPT candidate17q21.3
■22q13.3 Microdeletion606232(M) ARSA candidate
SHANK3 candidate		22q13.3
■Xp11.3 Microdeletion300578(M) RP2 candidate
ZNF674 candidate		Xp11.3
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A
■Adrenal hypoplasia congenita (AHC) *300200NR0B1Xp21.2
■Adult-onset autosomal dominant leukodystrophy (ADLD)* (FISH)169500LMNB1 5q23.2
■Alagille118450JAG120p12.2
■Albright hereditary osteodystrophy-like/Brachydactyly-MR600430(M)2q37.3
■Alpha thalassemia mental retardation (ATR-16) (OS)141750HBA1, HBA216pter-16p13.3
■Alzheimer disease, early onset with cerebral amyloid angiopathy * (FISH)104300APP21q21.3
■Angelman *105830UBE3A15q11.2
■Aniridia II106210PAX611p13
■Atrial septal defect (ASD) with atrioventricular conduction defects108900NKX2-55q35.2
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B
■Bannayan-Riley-Ruvalcaba (BRRS)153480PTEN10q23.31
□Bartter, antenatal 1146200SLC12A115q21.1
□Bartter, antenatal 2241200KCNJ111q24.3
□Bartter 3 (classic)607364CLCNKB1p36.13
□Bartter 4 (infantile with sensorineural deafness)602522BSND CLCNKA & CLCNKB1p32.3 1p36.13
■Basal cell nevus/Gorlin-Goltz109400PTCH19q22.32
■Beckwith-Wiedemann *130650IGF211p15.5
□Bilateral frontoparietal polymicrogyria (BFPP) 606854GPR56 16q13
■Blepharophimosis, ptosis, epicanthus inversus (BPE)110100FOXL23q22.3
■Branchio-oto-renal (BOR)/Melnick-Fraser113650EYA18q13.3
□Buschke-Ollendorff 166700LEMD312q14.3
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C
■Campomelic dysplasia (CMPD)114290SOX917q24.3
■Cat-eye *115470(M)22q11.1
■CHARGE214800CHD78q12.2
■Cleidocranial dysplasia (CCD)119600RUNX26p12.3
■Congenital adrenal hyperplasia (CAH) (OS)201910CYP21A26p21.32
■Congenital diaphragmatic hernia (CDH)142340CHD2 NR2F215q26.1 15q26.2
■Congenital diaphragmatic hernia 2 (CDH2) *222400GATA48p23.1
□Cornelia de Lange122470NIPBL5p13.2
■Cowden158350PTEN10q23.31
■Cri-du-Chat123450(M)5p15.2
■Currarino176450HLXB97q36.3
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D
■Dandy-Walker malformation (DWM)220200ZIC1, ZIC43q24
■DiGeorge/Velocardiofacial (VCF) *188400HIRA, TBX122q11.21
■DiGeorge 2601362(M)10p14
■Dosage-sensitive sex reversal *300018NR0B1Xp21.2
■Down syndrome critical region (DSCR) *602917(M)21q22.13
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F
■Familial adenomatous polyposis (FAP)/Gardner/MR175100APC5q22.2
□Familial hypocalciuric hypercalcemia 1 (HHC1)145980CASR3q21.1
■Feingold164280MYCN2p24.3
□FG 5 *300581MID2Xq22.3
■FMR1 Microdeletion300624FMR1Xq27.3
■Fryns 229850DISP1 candidate1q41
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G
□Generalized epilepsy with febrile seizures plus 2 (GEFS+2)604233SCN1A2q24.3
□Gitelman263800SLC12A316q13
■Glycerol kinase deficiency (GKD)300474GKXp21.2
■Greig cephalopolysyndactyly175700GLI37p14.1
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H
□Holoprosencephaly 1236100TMEM121q22.3
■Holoprosencephaly 2157170SIX32p21
■Holoprosencephaly 3142945SHH7q36.3
■Holoprosencephaly 4142946TGIF18p11.31
■Holoprosencephaly 5609637ZIC213q32.3
□Holoprosencephaly 6605934(M)2q37.1-q37.3
□Holoprosencephaly 7610828PTCH19q22.32
■Holoprosencephaly 8609408(M)14q13.1-q13.2
□Holoprosencephaly and preaxial polydactyly *605651FBXW115q35.1
□Holt-Oram *142900TBX5 12q24.21
■Hypoparathyroidism, sensorineural deafness, renal disease (HDR)146255GATA310p14
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J
■Jacobsen/11q terminal deletion disorder147791(M)11q23-11qter
□Joubert 3 608629AHI1 6q23.3
■Joubert 4609583NPHP12q13
□Joubert 5610188CEP29012q21.32
■Juvenile polyposis syndrome (JPS), BMPR1A-related174900BMPR1A10q23.2
■Juvenile polyposis syndrome (JPS), MADH4-related174900MADH4 (SMAD4)18q21.2
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K
■Kallmann 1308700KAL1Xp22.31
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L
■Langer-Giedion150230TRPS1
EXT1		8q23.3
8q24.11
■Langer mesomelic dysplasia (LMD) (OS)249700SHOXXpter-Xp22.3 &
Ypter-Yp11.32
□Leber congenital amaurosis X (LCAX)610142CEP29012q21.32
■Leri-Weill dyschondrosteosis (LWD) (OS)127300SHOXXpter-Xp22.3 &
Ypter-Yp11.32
□Li-Fraumeni 1 (LFS)151623TP5317p13.1
■Lissencephaly 1607432PAFAH1B1 (LIS1)17p13.3
□Lissencephaly with cerebellar hypoplasia 257320RELN7q22.1
□Loeys-Dietz (LDS), TGFBR1-related609192TGFBR19q22.33
□Loeys-Dietz (LDS), TGFBR2-related609192TGFBR23p24.1
■Lowe309000OCRLXq25
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M
□Macrocephaly-autism605309PTEN10q23.31
■Marfan 1 (MFS1)154700FBN115q21.1
□Marfan 2 (MFS2)154705TGFBR23p24.1
□Meckel 4611134CEP29012q21.32
■Microphthalmia 3206900SOX23q26.33
■Microphthalmia 7 with linear skin defects309801(M)Xp22.2
■Miller-Dieker247200PAFAH1B1 (LIS1)17p13.3
■Mohr-Tranebjaerg304700TIMM8AXq22.1
■Mowat-Wilson *235730ZFHX1B2q22.3
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N
■Nablus mask-like facial 608156(M)8q21.3-q22.1
■Nail-patella (NPS)161200LMX1B9q33.3
■Nephronophthisis 1256100NPHP12q13
□Neonatal severe primary hypoparathyroidism (NSHPT)239200CASR3q21.1
■Neurofibromatosis 1 (NF1)/MR162200NF117q11.2
■Neurofibromatosis 2 (NF2)101000NF222q12.2
■NFIA Haploinsufficiency 600727NFIA 1p31.3
□Noonan 1163950PTPN1112q24.13
□Noonan 4610733SOS12p22.1
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O
■Oculocutaneous albinism 2 (OCA2) * (OS)203200OCA215q13.1
■Okihiro607323SALL420q13.2
■Ornithine transcarbamylase deficiency (OTC)311250OTCXp11.4
□Oro-facio-digital 1 (OFD1)311200OFD1Xp22.2
□Oto-facio-cervical (OFC)166780EYA18q13.3
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P
■Pallister-Killian *601803(M)12p
■Pelizaeus-Merzbacher *312080PLP1Xq22.2
■Polycystic kidney disease 1 (PKD1) (OS)601313PKD116p13.3
■Potocki-Shaffer601224EXT2, ALX411p11.2
■Prader-Willi (PWS)*176270SNRPN15q11.2
■Prader-Willi-like phenotype176270SIM16q16.3
□Proteus/Proteus-like176920PTEN10q23.31
■PTEN hamartoma tumor158350PTEN10q23.31
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R
■Renal cysts and diabetes (RCAD) *137920TCF217q12
■Retinoblastoma/MR180200RB113q14.2
■Rieger 1 (RIEG1)180500PITX24q25
■Rubinstein-Taybi (RTS)180849CREBBP16p13.3
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S
■Saethre-Chotzen101400TWIST17p21.1
□Schizencephaly269160EMX210q26.11
□Senior-Loken 6610189CEP29012q21.32
■Severe myoclonic epilepsy of infancy (SMEI)607208SCN1A2q24.3
□Short stature, pituitary and cerebellar defects, small sella turcica606606LHX41q25.2
□Smith-Lemli-Opitz (SLOS)270400DHCR711q13.4
■Smith-Magenis (SMS) *182290RAI117p11.2
■Sotos117550NSD15q35.3
■Split-hand/foot malformation 1 (SHFM1)183600SHFM17q21.3
■Split-hand/foot malformation 3 (SHFM3) *600095FBXW410q24.32
□Split-hand/foot malformation 4 (SHFM4)605289TP73L3q28
■Split-hand/foot malformation 5 (SHFM5)606708DLX1, DLX22q31.1
■SRY dosage abnormalities278850/ 306100SRY Yp11.31
■Steroid sulfatase deficiency308100STSXp22.31
□Stickler I108300COL2A112q13.11
■Synpolydactyly/Syndactyly II186000HOXD gene cluster2q31.1
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T
■Townes-Brocks 1107480SALL1 16q12.1
■Trichorhinophalangeal 1190350TRPS18q23.3
■Tuberous sclerosis 2 (TSC2) (OS)191100TSC216p13.3
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U
■Ulnar-mammary 181450TBX3 12q24.21
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V
■Van der Woude119300IRF61q32.2
□Vascular endothelial growth factor (VEGFA)-related disorders192240VEGFA6p21.1
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W
■Waardenburg syndrome IIA193510MITF3p14.1
■WAGR194072PAX6, WT111p13
■Williams-Beuren *194050ELN7q11.23
■Wilms Tumor 1194070WT111p13
■Wolf-Hirschhorn194190(M)4p16.3
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X
■X-linked agammaglobulinemia300300BTKXq22.1
■X-linked heterotaxy306955ZIC3Xq26.3
■X-linked idiopathic short stature (ISSX) (OS)300582SHOXXpter-Xp22.3 & Ypter-Yp11.32
□X-linked infantile spasms, ARX-related308350ARXXp21.3
■X-linked infantile spasms, CDKL5-related300203CDKL5Xp22.13
□X-linked juvenile retinoschisis312700RS1Xp22.13
□X-linked lissencephaly300067DCXXq22.3
□X-linked lissencephaly with ambiguous genitalia300215ARXXp21.3
■X-linked lymphoproliferative syndrome (XLP)308240SH2D1AXq25
■X-linked mental retardation 21300143IL1RAPL1Xp21.3
□X-linked mental retardation 30 300558PAK3 Xq22.3
□X-linked mental retardation 54300419ARXXp21.3
■X-linked mental retardation with isolated growth hormone deficiency *300123SOX3Xq27.1
■XX male278850SRY Yp11.31
■XY gonadal dysgenesis306100SRY Yp11.31
□XY sex-reversal, +/- adrenal failure184757NR5A19q33.3
N/AAll 41 unique subtelomeric regions (M)41 sites
N/AAll 43 unique pericentromeric regions (M)43 sites
N/AAneuploidy for 24 chromosomes (M)24 chromosomes
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