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Selected Genes and Associated Disorders in the Chromosomal Microarray, Postnatal, ClariSure Oligo-SNP Test

  • Interpretive Guide
Postnatal, ClariSure Oligo-SNP Table

Table. Selected Genes and Associated Disorders in the Chromosomal Microarray, Postnatal, ClariSure® Oligo-SNP Testa

1p36 deletion syndrome

 
OMIM# Gene Target Gene Map Locus
607872 Multiple 1p36

1q21.1 deletion syndrome

 
OMIM# Gene Target Gene Map Locus
612474 Multiple 1q21.1

1q21.1 deletion syndrome (thrombocytopenia-absent radius [TAR] syndrome)

OMIM# Gene Target Gene Map Locus
274000 Multiple 1q21.1

1q21.1 duplication syndrome

OMIM# Gene Target Gene Map Locus
612475 Multiple 1q21.1

2p16.1-p15 deletion syndrome

 
OMIM# Gene Target Gene Map Locus
612513 Multiple 2p16.1-p15

2q32-q33 deletion syndrome

 
OMIM# Gene Target Gene Map Locus
612313 Multiple 2q32-q33

3q29 microdeletion syndrome

 
OMIM# Gene Target Gene Map Locus
609425 Multiple in 3q29, including PAK2 and DLG1 3q29

15q13.3 microdeletion syndrome

 
OMIM# Gene Target Gene Map Locus
612001 Multiple 15q13.3

22q11.2 microduplication syndrome

 
OMIM# Gene Target Gene Map Locus
608363 Duplication of 3-Mb region in 22q11 22q11.2

22q11.2 deletion syndrome, distal

 
OMIM# Gene Target Gene Map Locus
611867 Multiple 22q11.2

22q13.3 deletion syndrome

 
OMIM# Gene Target Gene Map Locus
606232 SHANK3 22q13.33

9q34.3 deletion syndrome

 
OMIM# Gene Target Gene Map Locus
610253 EHMT1 9q34.3

Adrenal hypoplasia, congenital

 
OMIM# Gene Target Gene Map Locus
300200 NROB1 Xp21.2

Alagille syndrome

 
OMIM# Gene Target Gene Map Locus
118450 JAG1 20p12.2

Albinism, oculocutaneous, type II

 
OMIM# Gene Target Gene Map Locus
203200 OCA2 15q12-q13

All unique subtelomeric regions

 
OMIM# Gene Target Gene Map Locus
Multiple 41 subtelomeres

All unique pericentromeric regions

 
OMIM# Gene Target Gene Map Locus
Multiple 43 pericentromeric regions

Alpha-thalassemia/mental retardation syndrome, deletion type

 
OMIM# Gene Target Gene Map Locus
141750 HBA1, HBA2, SOX8 16pter-p13.3

Amyloid beta A4 precursor protein (APP, Alzheimer disease 1)

 
OMIM# Gene Target Gene Map Locus
104760 APP 21q21.3

Aneuploidy

 
OMIM# Gene Target Gene Map Locus
Multiple All chromosomes

Angelman syndrome

 
OMIM# Gene Target Gene Map Locus
105830 UBE3A 15q11.2

Aniridia, type II

 
OMIM# Gene Target Gene Map Locus
106210 PAX6 11p13

Atrial septal defect 2

 
OMIM# Gene Target Gene Map Locus
607941 GATA4 8p23.1

Autism susceptibility

 
OMIM# Gene Target Gene Map Locus
608636 Duplication of 15q11-q13 15q11
Autism susceptibility  
OMIM# Gene Target Gene Map Locus
611913 Multiple 16p11.2
Autism, X-linked, susceptibility  
OMIM# Gene Target Gene Map Locus
300495 NLGN4 Xp22.32-p22.31

Azoospermia factors (a, b, and c)

 
OMIM# Gene Target Gene Map Locus
400003

400026

400027

DAZ 1-4 Yq11.223

Bardet-Biedl syndrome 14

 
OMIM# Gene Target Gene Map Locus
209900 CEP290 12q21.32

Bartter syndrome, infantile, with sensorineural deafness

 
OMIM# Gene Target Gene Map Locus
602522 BSND 1p32.3

Basal cell nevus syndrome (Gorlin syndrome)

 
OMIM# Gene Target Gene Map Locus
109400 PTCH1 9q22.32

Beckwith-Wiedemann syndrome

 
OMIM# Gene Target Gene Map Locus
130650

CDKN1C

H19

KCNQ1OT1

11p15.4

11p15.5

11p15.5

Blepharophimosis, ptosis, and epicanthus inversus

 
OMIM# Gene Target Gene Map Locus
110100 FOXL2 3q22.3

Brachydactyly-mental retardation syndrome

 
OMIM# Gene Target Gene Map Locus
600430 Deletion 2q37; HDAC4 2q37.3

Branchiootorenal syndrome 1

 
OMIM# Gene Target Gene Map Locus
113650 EYA1 8q13.3

Bruton agammaglobulinemia tyrosine kinase

 
OMIM# Gene Target Gene Map Locus
300300 BTK Xq22.1

Buschke-Ollendorff syndrome

 
OMIM# Gene Target Gene Map Locus
166700 LEMD3 12q14.3

Campomelic dysplasia

 
OMIM# Gene Target Gene Map Locus
114290 SOX9 17q24.3

Cat eye syndrome

 
OMIM# Gene Target Gene Map Locus
115470 22q11

Charcot-Marie-Tooth disease, demyelinating, type 1A

 
OMIM# Gene Target Gene Map Locus
118220 PMP22 17p12

CHARGE syndrome

 
OMIM# Gene Target Gene Map Locus
214800 CHD7

8q12.1-q12.2

Cleidocranial dysplasia

 
OMIM# Gene Target Gene Map Locus
119600 RUNX2 6p21.1

Cornelia de Lange syndrome

 
OMIM# Gene Target Gene Map Locus
122470 NIPBL 5p13.2

Cri-du-chat syndrome

 
OMIM# Gene Target Gene Map Locus
123450 Multiple 5p15.2

Currarino syndrome

 
OMIM# Gene Target Gene Map Locus
176450 HLXB9 7q36.3

Dandy-Walker syndrome

 
OMIM# Gene Target Gene Map Locus
220200 ZIC4, ZIC1 3q22-q24

Diaphragmatic hernia, congenital

 
OMIM# Gene Target Gene Map Locus
142340 DIH1, HCD 15q26.1

DiGeorge/Velocardiofacial syndrome 1

 
OMIM# Gene Target Gene Map Locus

188400
192430

HIRA, TBX1 22q11.21

DiGeorge/Velocardiofacial syndrome 2

 
OMIM# Gene Target Gene Map Locus
601362 Unknown 10p14-p13

Dosage-sensitive sex reversal

 
OMIM# Gene Target Gene Map Locus
300018 NROB1 Xp21.2

Down syndrome critical region

 
OMIM# Gene Target Gene Map Locus
190685

Multiple

21q22.3

Epileptic encephalopathy, early infantile, 2

 
OMIM# Gene Target Gene Map Locus
300672 CDKL5 Xp22.13

Familial adenomatous polyposis (FAP)/Gardner syndrome

 
OMIM# Gene Target Gene Map Locus
175100 APC 5q22.2

Feingold syndrome

 
OMIM# Gene Target Gene Map Locus
164280 MYCN 2p24.3

Greig cephalopolysyndactyly syndrome

 
OMIM# Gene Target Gene Map Locus
175700 GLI3 7p14.1

Hereditary neuropathy with pressure palsies (HNPP)

 
OMIM# Gene Target Gene Map Locus
162500 PMP22 17p12

Heterotaxy, visceral, X-linked

 
OMIM# Gene Target Gene Map Locus
306955 ZIC3 Xq26.3

Holoprosencephaly 1

 
OMIM# Gene Target Gene Map Locus
236100 HPE1 21q22.3

Holoprosencephaly 2

 
OMIM# Gene Target Gene Map Locus
157170 SIX3 2p21

Holoprosencephaly 3

 
OMIM# Gene Target Gene Map Locus
142945 SHH 7q36.3

Holoprosencephaly 4

 
OMIM# Gene Target Gene Map Locus
142946 TGIF 18p11.31

Holoprosencephaly 5

 
OMIM# Gene Target Gene Map Locus
609637 ZIC2 13q32.3

Holoprosencephaly 7

 
OMIM# Gene Target Gene Map Locus
610828 PTCH1 9q22.32

Holt-Oram syndrome

 
OMIM# Gene Target Gene Map Locus
142900 TBX5 12q24.21

Hyperglycerolemia (glycerol kinase deficiency)

 
OMIM# Gene Target Gene Map Locus

307030

300474

GK Xp21.2

Hypoparathyroidism, sensorineural deafness, renal disease (HDR)

OMIM# Gene Target Gene Map Locus
146255 GATA3 10p14

Jacobsen syndrome

 
OMIM# Gene Target Gene Map Locus
147791 Deletion 11q23; many genes 11q23

Joubert syndrome 3

 
OMIM# Gene Target Gene Map Locus
608629 AHI1 6q23.3

Joubert syndrome 5

 
OMIM# Gene Target Gene Map Locus
610188 CEP290 12q21.32

Kallmann syndrome 1

 
OMIM# Gene Target Gene Map Locus
308700 KAL1 Xp22.31

Klinefelter (XXY male)

 
OMIM# Gene Target Gene Map Locus

Koolen-De Vries syndrome (17q21.31 microdeletion)

 
OMIM# Gene Target Gene Map Locus
610443 KANSL1 17q21.31

Langer-Giedion syndrome (trichorhinophalangeal syndrome)

 
OMIM# Gene Target Gene Map Locus
150230 TRPS1, EXT1 8q24.11-q24.13

Leri-Weill dyschondrosteosis

 
OMIM# Gene Target Gene Map Locus
127300

SHOX

SHOXY

Xp22.32

Yp11.2

Leukodystrophy, demyelinating, adult-onset, autosomal dominant

OMIM# Gene Target Gene Map Locus
169500 LMNB1 5q23.2

Li-Fraumeni syndrome 1

 
OMIM# Gene Target Gene Map Locus
151623 TP53 17p13.1

Lissencephaly 2, Norman-Roberts type

 
OMIM# Gene Target Gene Map Locus
257320 RELN 7q22.1

Lissencephaly, X-linked

 
OMIM# Gene Target Gene Map Locus
300067 DCX Xq23

Loeys-Dietz syndrome, type 1A

 
OMIM# Gene Target Gene Map Locus
609192 TGFBR1 9q22.33

Marfan syndrome

 
OMIM# Gene Target Gene Map Locus
154700 FBN1 15q21.1

Mental retardation, X-linked

 
OMIM# Gene Target Gene Map Locus
300419 ARX

Xp21.3

Mental retardation, X-linked, syndromic, Turner type

 
OMIM# Gene Target Gene Map Locus
300706 HUWE1 Xp11.22

Mental retardation, X-linked, with isolated growth hormone deficiency

OMIM# Gene Target Gene Map Locus
300123 SOX3 Xq27.1

Microphthalmia, syndromic 3

 
OMIM# Gene Target Gene Map Locus
206900 SOX2 3q26.33

Miller-Dieker lissencephaly syndrome

 
OMIM# Gene Target Gene Map Locus

247200

607432

LIS1 17p13.3

17p13.3

Mowat-Wilson syndrome

 
OMIM# Gene Target Gene Map Locus
235730 ZEB2 2q22.3

Nail-patella syndrome

 
OMIM# Gene Target Gene Map Locus
161200 LMX1B 9q33.3

Nephronophthisis 1

 
OMIM# Gene Target Gene Map Locus
256100 NPHP1 2q13

Neurofibromatosis type I

 
OMIM# Gene Target Gene Map Locus
162200 NF1 17q11.2

Neurofibromatosis type II

 
OMIM# Gene Target Gene Map Locus
101000 NF2 22q12.2

Noonan syndrome 1

 
OMIM# Gene Target Gene Map Locus
163950 PTPN11 12q24.13

Noonan syndrome 4

 
OMIM# Gene Target Gene Map Locus
610733 SOS1 2p22.1

Pelizaeus-Merzbacher disease

 
OMIM# Gene Target Gene Map Locus
312080 PLP1 Xq22.2

Polycystic kidney disease 1

 
OMIM# Gene Target Gene Map Locus
173900 PKD1 16p13.3

Potocki-Lupski syndrome

 
OMIM# Gene Target Gene Map Locus
610883 RAI1 17p11.2

Potocki-Shaffer syndrome

 
OMIM# Gene Target Gene Map Locus
601224 EXT2, ALX4 11p11.2

Prader-Willi syndrome

 
OMIM# Gene Target Gene Map Locus
176270

SNRPN

NDN

15q11.2

15q11.2

Prader-Willi-like phenotype

 
OMIM# Gene Target Gene Map Locus
176270 SIM1 6q16.3

Renal cysts and diabetes syndrome

 
OMIM# Gene Target Gene Map Locus
137920 HNF1B 17q12

Retinoblastoma

 
OMIM# Gene Target Gene Map Locus
180200 RB1 13q14.2

Rett syndrome

 
OMIM# Gene Target Gene Map Locus
312750 MECP2 Xq28

Rieger syndrome, type 1

 
OMIM# Gene Target Gene Map Locus
180500 PITX2 4q25

Rubinstein-Taybi syndrome

 
OMIM# Gene Target Gene Map Locus
180849 CREBBP 16p13.3

Saethre-Chotzen syndrome

 
OMIM# Gene Target Gene Map Locus
101400 TWIST1 7p21.1

Severe myoclonic epilepsy of infancy

 
OMIM# Gene Target Gene Map Locus
607208 SCN1A 2q24.3

Sex reversal, XY, with or without adrenal failure

 
OMIM# Gene Target Gene Map Locus
612965 NR5A1 9q33.3

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

OMIM# Gene Target Gene Map Locus
262700 LHX4

1q25.2

Smith-Lemli-Opitz syndrome

 
OMIM# Gene Target Gene Map Locus
270400 DHCR7

11q13.4

Smith-Magenis syndrome

 
OMIM# Gene Target Gene Map Locus
182290 RAI1 17p11.2

Sotos syndrome

 
OMIM# Gene Target Gene Map Locus
117550 NSD1 5q35.2-q35.3

Split hand/foot malformation 1

 
OMIM# Gene Target Gene Map Locus
183600 SHFM1 7q21.2-q21.3

Split hand/foot malformation 3

 
OMIM# Gene Target Gene Map Locus
246560 SHFM3 10q24

Split hand/foot malformation 4

 
OMIM# Gene Target Gene Map Locus
605289 TP73L 3q28

Split hand/foot malformation 5

 
OMIM# Gene Target Gene Map Locus
606708 DLX1, DLX2 2q31

Steroid sulfatase deficiency (ichthyosis, X-linked)

 
OMIM# Gene Target Gene Map Locus
308100 STS Xp22.31

Stickler syndrome, type 1

 
OMIM# Gene Target Gene Map Locus
108300 COL2A1 12q13.11

Synpolydactyly 1

 
OMIM# Gene Target Gene Map Locus
186000 HOXD gene cluster 2q31.1

Trichorhinophalangeal syndrome 1

 
OMIM# Gene Target Gene Map Locus
190350 TRPS1 8q23.3

Townes-Brocks syndrome

 
OMIM# Gene Target Gene Map Locus
107480 SALL1 16q12.1

Tuberous sclerosis 1

 
OMIM# Gene Target Gene Map Locus
191100 TSC1 9q34.13

Tuberous sclerosis 2

 
OMIM# Gene Target Gene Map Locus
613254 TSC2 16p13.3

Ulnar-mammary syndrome

 
OMIM# Gene Target Gene Map Locus
181450 TBX3 12q24.21

van der Woude syndrome

 
OMIM# Gene Target Gene Map Locus
119300 IRF6 1q32.2

Waardenburg syndrome, type IIA

 
OMIM# Gene Target Gene Map Locus
193510 MITF

3p14-p13

WAGR syndrome

 
OMIM# Gene Target Gene Map Locus
194072 WT1 11p13

Williams-Beuren region duplication syndrome

 
OMIM# Gene Target Gene Map Locus
609757 ELN, LIMK1 7q11.23

Williams-Beuren syndrome (7q11.23 deletion)

 
OMIM# Gene Target Gene Map Locus
194050 ELN, LIMK1 7q11.23

Wolf-Hirschhorn syndrome

 
OMIM# Gene Target Gene Map Locus

194190

165-kb critical region contains FGFR3

4p16.3

a This table contains some of the more common disorders associated with copy number variants (CNVs) that are detectable by this method; however, it is not comprehensive.
 

 Content reviewed 11/2013

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