PRENATAL TARGETED REGIONS
Disorders Tested
OMIM#
Locus
Band(s)
Xp21.2
20p12.2
2q37.3
15q11.2
11p13
9q22.32
11p15.5
3q22.3
8q13.3
17q24.3
22q11.1
8q12.2
17p12
6p12.3
5p13.2
5p15.2
3q24
22q11.21
10p14
Xp21.2
Xp21.2
5q22.2
2p24.3
Xq27.3
Xp21.2
7p14.1
21q22.3
2p21
7q36.3
18p11.31
13q32.3
2q37.1-q37.3
9q22.32
10p14
11q23-11qter
2q13
Xp22.31
8q23.3
8q24.11
Xpter-Xp22.3 &
Ypter-Yp11.32
11q14.2q14.3
Xp22.2
17p13.3
2q22.3
9q33.3
2q13
17q11.2
22q12.2
12q24.13
8q13.3
12p
Xq22.2
16p13.3
11p11.2
15q11.2
6q16.3
13q14.2
Xq28
4q25
16p13.3
7p21.1
17p11.2
Adrenal hypoplasia congenita (AHC)
Alagille
Albright hereditary osteodystrophy-like/Brachydactyly-MR
Angelman
Aniridia II
Basal cell nevus/Gorlin-Goltz
Beckwith-Wiedemann
Blepharophimosis, ptosis, epicanthus inversus (BPE)
Branchio-oto-renal (BOR)/Melnick-Fraser
Campomelic dysplasia (CMPD)
Cat-eye
CHARGE
Charcot-Marie-Tooth disease, demyelinating, type 1A
Cleidocranial dysplasia (CCD)
Cornelia de Lange 1
Cri-du-Chat
Dandy-Walker malformation (DWM)
DiGeorge/Velocardiofacial (VCF)
DiGeorge 2
DMD
Dosage-sensitive sex reversal
Familial adenomatous polyposis (FAP)/Gardner/MR
Feingold
FMR1 Microdeletion
Glycerol kinase deficiency (GKD)
Greig cephalopolysyndactyly
Holoprosencephaly 1
Holoprosencephaly 2
Holoprosencephaly 3
Holoprosencephaly 4
Holoprosencephaly 5
Holoprosencephaly 6
Holoprosencephaly 7
Hypoparathyroidism, sensorineural deafness, renal disease (HDR)
Jacobsen/11q terminal deletion disorder
Joubert 4
Kallmann 1
Langer-Giedion
300200
118450
600430
105830
106210
109400
130650
110100
113650
114290
115470
214800
118220
119600
122470
123450
220200
188400
601362
310200
300018
175100
164280
300624
300474
175700
236100
157170
142945
142946
609637
605934
610828
146255
147791
609583
308700
150230
Leri-Weill dyschondrosteosis (LWD) (OS)
127300
NR0B1
JAG1
(M)
UBE3A
PAX6
PTCH1
IGF2
FOXL2
EYA1
SOX9
(M)
CHD7
PMP22
RUNX2
NIPBL
(M)
ZIC1, ZIC4
HIRA, TBX1
(M)
Dystrophin
NR0B1
APC
MYCN
FMR1
GK
GLI3
TMEM1
SIX3
SHH
TGIF
ZIC2
(M)
PTCH1
GATA3
(M)
NPHP1
KAL1
TRPS1
EXT1
SHOX
Leukodystrophy with microdeletion 11q14.3
Microphthalmia 7 with linear skin defects
Miller-Dieker
Mowat-Wilson
Nail-patella (NPS)
Nephronophthisis 1
Neurofibromatosis 1 (NF1)/MR
Neurofibromatosis 2 (NF2)
Noonan 1
Oto-facio-cervical (OFC)
Pallister-Killian
Pelizaeus-Merzbacher
Polycystic kidney disease 1 (PKD1) (OS)
Potocki-Shaffer
Prader-Willi (PWS)
Prader-Willi-like phenotype
Retinoblastoma/MR
Rett syndrome
Rieger 1 (RIEG1)
Rubinstein-Taybi (RTS)
Saethre-Chotzen
Smith-Magenis (SMS)
309801
247200
235730
161200
256100
162200
101000
163950
166780
601803
312080
601313
601224
176270
176270
180200
312750
180500
180849
101400
182290
(M)
(M)
PAFAH1B1 (LIS1)
ZFHX1B
LMX1B
NPHP1
NF1
NF2
PTPN11
EYA1
(M)
PLP1
PKD1
EXT2, ALX4
SNRPN, Necdin
SIM1
RB1
MECP2
PITX2
CREBBP
TWIST1
RAI1
Sotos
Split-hand/foot malformation 1 (SHFM1)
Split-hand/foot malformation 3 (SHFM3)
Split-hand/foot malformation 4 (SHFM4)
Split-hand/foot malformation 5 (SHFM5)
SRY dosage abnormalities
Steroid sulfatase deficiency
Synpolydactyly/Syndactyly I
Tuberous sclerosis 2 (TSC2) (OS)
117550
183600
600095
605289
606708
278850/
308100
306100
186000
191100
Williams-Beuren
Wolf-Hirschhorn
X-linked heterotaxy
X-linked lissencephaly
X-linked mental retardation with isolated growth hormone deficiency
1p36 Microdeletion
3q29 Microdeletion
8p23.1 Microdeletion
17q21.3 Microdeletion
22q13.3 Microdeletion
All 41 unique subtelomeric regions
All 43 unique pericentromeric regions
Aneuploidy for 24 chromosomes
194050
194190
306955
300067
300123
607872
609425
610443
606232
NSD1
SHFM1
FBXW4
TP73L
DLX1, DLX2
SRY
STS
HOXD gene cluster
TSC2
END3
SOX10
ELN
(M)
ZIC3
DCX
SOX3
(M)
(M)
(M)
(M)
(M)
(M)
(M)
(M)
5q35.3
7q21.3
10q24.32
3q28
2q31.1
Yp11.31
Xp22.31
2q31.1
16p13.3
20q13.2-q13.3
22q13.1
7q11.23
4p16.3
Xq26.3
Xq22.3
Xq27.1
1p36
3q29
8p23.1
17q21.3
22q13.3
41 sites
43 sites
24 chromosomes