Disorders Tested
Clinically recognized regions of the genome assayed by
the SignatureChipOS™ (V2) / Signature PrenatalChip®OS
The SignatureChipOS™ / PrenatalChip®OS is a “whole genome” array and therefore may identify genetic conditions not included in the representative list of Disorders Tested. This microarray may identify copy number changes associated with adult-onset conditions and/or cancer predisposition that are potentially unrelated to the patient’s current clinical findings, but that may become apparent later in life. In addition, if there is a family history of a known or suspected genetic condition unrelated to the reason for testing, please contact the laboratory to discuss prior to sample submission.
# | A | B | C | D | F | G | H | I | J | K | L | M | N | O | P | R | S | T | W | X
| Disorder | OMIM# | Gene(s)/Locus | Location | |
|---|---|---|---|---|
|
■ Microdeletions or microduplications have been associated with this condition □ Microdeletions or microduplications are rare or not yet associated with this condition * Duplications of these regions are associated with a syndrome / clinical phenotype Information based on UCSC Genome Browser, March 2006 Assembly (hg18). For more information, please refer to the Signature Genomics Detection Rates Table | ||||
| ■ | 1p36 Microdeletion * | 607872 | Multiple | 1p36 |
| ■ | 1q21.1 Microdeletion with susceptibility for thrombocytopenia-absent 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 IL1RAPL1 OTC | Xp11.4-p21.2 | |
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| A | ||||
| ■ | Adrenal hypoplasia congenita (AHC) | 300200 | NR0B1 | Xp21.2 |
| ■ | Alagille | 118450 | JAG1 | 20p12.2 |
| ■ | Albright hereditary osteodystrophy-like/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) with atrioventricular conduction defects | 108900 | NKX2-5 | 5q35.2 |
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| B | ||||
| ■ | 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 or CLCNKA and 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 |
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| C | ||||
| ■ | 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 |
| ■ | Cerebral cavernous malformations, type 2 (CCM2) | 603284 | CCM2 | 7p13 |
| ■ | Cerebral cavernous malformations, type 3 (CCM3) | 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 |
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| D | ||||
| ■ | 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 |
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| F | ||||
| ■ | 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 |
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| G | ||||
| □ | Generalized epilepsy with febrile seizures plus 2 (GEFS+2) | 604233 | SCN1A | 2q24.4 |
| □ | Gitelman | 263800 | SLC12A3 | 16q13 |
| ■ | Glycerol kinase deficiency (GKD) | 300474 | GK | Xp21.2 |
| ■ | Greig cephalopolysyndactyly | 175700 | GLI3 | 7p14.1 |
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| H | ||||
| ■ | 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 | 12q24.1 |
| ■ | Hypoparathyroidism, sensorineural deafness, renal disease (HDR) | 146255 | GATA3 | 10p14 |
| ■ | Hypotonia-cystinuria | 606407 | SLC3A1 PREPL |
2p21 |
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| I | ||||
| ■ | Infantile hyperinsulinism with enteropathy & deafness | 606528 | USH1C ABCC8 |
11p15.1 |
| ■ | Infantile spasms, MAGI2-related | 606382 | MAGI2 | 7q21.11 |
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| J | ||||
| ■ | Jacobsen/11q terminal deletion disorder | 147791 | Multiple | 11q23 -11qter |
| □ | Joubert 3 | 608629 | AHI1 | 6q23.3 |
| ■ | Joubert 4 | 609583 | NPHP1 | 2q13 |
| □ | Joubert 5 | 610188 | CEP290 | 12q21.32 |
| ■ | Juvenile polyposis (JPS), BMPR1A-related | 174900 | BMPR1A | 10q23.2 |
| ■ | Juvenile polyposis (JPS), SMAD4-related | 174900 | SMAD4 | 18q21.2 |
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| K | ||||
| ■ | Kallmann 1 | 308700 | KAL1 | Xp22.31 |
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| L | ||||
| ■ | 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 |
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| M | ||||
| □ | 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 |
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| N | ||||
| ■ | 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, autosomal recessive (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 |
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| O | ||||
| ■ | 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 |
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| P | ||||
| ■ | 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 |
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| R | ||||
| ■ | 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 |
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| S | ||||
| ■ | 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/ 400044 |
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 |
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| T | ||||
| ■ | 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 |
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| U | ||||
| ■ | Ulnar-mammary | 181450 | TBX3 | 12q24.21 |
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| V | ||||
| ■ | 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 |
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| W | ||||
| ■ | 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 |
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| X | ||||
| ■ | X-linked agammaglobulinemia | 300755 | BTK | Xq22.1 |
| ■ | X-linked Alport (ATS) | 301050 | COL4A5 | Xq22.3 |
| ■ | X-linked Alport plus diffuse leiomyomatosis (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 | Multiple | 24 chromosomes | ||
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