Disorders Tested

Clinically recognized regions of the genome assayed by
the SignatureChipOS® / Signature PrenatalChip®OS


The SignatureChipOS® / PrenatalChipOS® 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 in childhood or 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.

# | 1 | 2 | 3 | 5 | 6 | 7 | 8 | 9 | 10 | 12 | 14 | 15 | 16 | 17 | 19 | 22 | X
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
1p36 Microdeletion * 607872 Multiple 1p36
1q21.1 Distal microdeletion *

612474

Multiple
ACP6 candidate
GJA5 candidate
GJA8 candidate
1q21.1-q21.2
1q21.1 Microdeletion with susceptibility for thrombocytopenia-absent radius (TAR) 274000 Multiple 1q21.1
1q41-q42 Microdeletion/Fryns 612530/
229850
Multiple 1q41-q42
1q44 Microdeletion 612337 Multiple
AKT3 candidate
1q44
2p15-p16.1 Microdeletion 612513 Multiple 2p15-p16.1
2p16.3 Microdeletion/Pitt-Hopkins-like 2 * 600565 NRXN1 2p16.3
2p21 Microdeletion, autosomal recessive 606407 Multiple 2p21
2q23.1 Microdeletion   MBD5
EPC2
2q23.1
2q32.2-q33 Microdeletion 119540 Multiple
SATB2 candidate
2q33.1
3q29 Microdeletion 609425 Multiple 3q29
3q29 Microduplication * 611936 Multiple 3q29
5p13.2 Microduplication * 613174 NIPBL 5p13.2
5q35.2-q35.3 Microduplication *   NSD1 5q35.2-q35.3
6p25.3 Microdeletion 612582 Multiple 6p25.3
6q24.3 Microdeletion 612863 Multiple 6q24.3
6q25.2-q25.3 Microdeletion 612863 Multiple 6q25.2-q25.3
7q11.23 Microduplication * 609757 Multiple 7q11.23
8p23.1 Microdeletion/
Congenital diaphragmatic hernia 2 (CDH2)
222400 Multiple
GATA4 candidate
8p23.1
8p23.1 Microduplication *   Multiple
GATA4 candidate
8p23.1
8q12 Microduplication *   Multiple
CHD7 candidate
8q12.1-q12.3
9q22.32-q22.33 Microdeletion   Multiple
TGFBR1 candidate
GABBR2 candidate
9q22.32-q22.33
9q34 Microdeletion/
Kleefstra *
610253 EHMT1 9q34.3
10q22.3-q23.31 Microdeletion   Multiple 10q23.1-q23.2
12q14.1-q15 Microdeletion *   Multiple
LEMD3 candidate
GRIP1 candidate
HMGA2 candidate
12q14.3-q15
12q14.3-related primordial dwarfism/
Russell-Silver-like
  HMGA2 12q14.3
12q24.21-q24.23 Microduplication *   Multiple 12q24.21-q24.23
14q11.2 Microdeletion   Multiple
CHD8 candidate
SUPT16H candidate
14q11.2
14q12 Microduplication * 164874 Multiple
FOXG1 candidate
14q12
14q22-q23 Microdeletion   Multiple 14q22-q23
14q32.2 Microdeletion causing
upd(14)mat phenotype
  Multiple
DLK1 candidate
RTL1 candidate
14q32.2
14q32.2 Microdeletion causing
upd(14)pat phenotype
608149 Multiple
MEG3 candidate
MEG8 candidate
RTL1 candidate
14q32.2
15q11-q13 Microduplication * 608636 Multiple 15q11-q13
15q13.3 Microdeletion * 612001 Multiple
CHRNA7 candidate
15q13.3
15q24.1-q24.2 Microdeletion 613406 Multiple 15q24.1-q24.2
15q24.1-q24.2 Microduplication * 613406 Multiple 15q24.1-q24.2
16p11.2 Microdeletion * 611913 Multiple 16p11.2
16p11.2-p12.2 Microdeletion * 613604 Multiple 16p11.2-p12.2
16p12.1 Microdeletion   Multiple
CDR2 candidate
EEF2K candidate
UQCRC2 candidate
16p12.2
16p13.11 Microdeletion *   Multiple 16p13.1
16p13.3 Microdeletion/
Severe Rubinstein-Taybi
610543 Multiple
CREBBP
16p13.3
16p13.3 Microduplication * 613458 CREBBP 16p13.3
16q11.2-q12.2 Microdeletion   Multiple
SALL1 candidate
ZNF423 candidate
16q11.2-q12.1
17p13.1 Microdeletion 613776 Multiple
TP53
17p13.1
17p13.3 Distal microdeletion   YWHAE
CRK
17p13.3
17p13.3 Distal microduplication, not including lissencephaly region (PAFAH1B1) * 613215 YWHAE
CRK
17p13.3
17p13.3 Proximal microduplication,
including lissencephaly region (PAFAH1B1) *
613215 PAFAH1B1 (LIS1)
YWHAE
CRK
17p13.3
17q12 Microduplication *   Multiple
HNF1B candidate
LHX1 candidate
17q12
17q21.31 Microdeletion 610443 Multiple
MAPT candidate
17q21.31
17q21.31 Microduplication * 613533 Multiple 17q21.31
17q23.1-q23.2 Microdeletion * 613355 Multiple
TBX2 candidate
TBX4 candidate
17q23.1-q23.2
19q13.11 Microdeletion 613026 Multiple
LSM14A candidate
UBA2 candidate
19q13.11
22q11.2 Distal microdeletion * 611867 Multiple 22q11.2
22q11.21 Microduplication * 608363 Multiple
TBX1 candidate
22q11.21
22q13.3 Microdeletion * 606232 Multiple
SHANK3 candidate
22q13.3
Xp11.22-p11.23 Microduplication * 300801 Multiple Xp11.22-p11.23
Xp11.22-linked intellectual disability/
Mental retardation 17, X-linked/
Mental retardation 31, X-linked *
300705 Multiple
HSD17B10 candidate
HUWE1 candidate
Xp11.22
Xp11.3 Microdeletion 300578 Multiple
RP2 candidate
ZNF674 candidate
Xp11.23-p11.3
Xp11.4-p21.2 Contiguous gene deletion   Multiple
IL1RAPL1
OTC
Xp11.4-p21.3
Xq28 Microduplication * 300815 Multiple
GDI1 candidate
IKBKG candidate
Xq28
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A
Adrenal hypoplasia congenita, X-linked (AHC) 300200 NR0B1 Xp21.2
Agammaglobulinemia, X-linked/
Bruton agammaglobulinemia, X-linked
300755 BTK Xq22.1
Alagille 118450 JAG1 20p12.2
Albright hereditary osteodystrophy-like/ Brachydactyly with intellectual disability/
2q37 Microdeletion
600430 HDAC4 2q37.3
Alpha thalassemia with intellectual disability
(AT-ID)
141750 Multiple
HBA1
HBA2
SOX8 candidate
16p13.3
Alport, X-linked (ATS) 301050 COL4A5 Xq22.3
Alport plus diffuse leiomyomatosis, X-linked (ATS-DL) 301050 COL4A5
COL4A6
Xq22.3
Androgen insensitivity, X-linked 300068 AR Xq12
Angelman 105830 UBE3A 15q11.2
Aniridia II 106210 PAX6 11p13
ANKRD11 haploinsufficiency/
16q24.3 Microdeletion
  ANKRD11 16q24.3
Atrial septal defect (ASD) with atrioventricular conduction defects 108900 NKX2-5 5q35.1
Autism with intellectual disability, SHANK2-related 613436 SHANK2 11q13.3-q13.4
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B
Bannayan-Riley-Ruvalcaba (BRRS)/
PTEN hamartoma tumor
153480 PTEN 10q23.31
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
Beta thalassemia 141900 HBB 11p15.4
Bilateral frontoparietal polymicrogyria,
autosomal recessive  (BFPP)
606854 GPR56 16q21
Blepharophimosis, ptosis epicanthus inversus (BPE) 110100 FOXL2 3q22.3
Boston-type craniosynostosis/
Craniosynostosis type 2 *
604757 MSX2 5q35.2
Branchio-oto-renal (BOR)/
Melnick-Fraser
113650 EYA1 8q13.3
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C
Campomelic dysplasia (CMPD) 114290 SOX9 17q24.3
Cat-eye * 115470 Multiple 22q11.1-q11.21
Cerebellar hypoplasia, VLDLR-related, autosomal recessive/
Hutterite dysequilibrium, autosomal recessive
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 8q12.1-q12.2
Chondrodysplasia 1, X-linked (CDPX1) 302950 ARSE Xp22.33
Choroideremia, X-linked 303100 CHM Xq21.2
Chronic granulomatous disease, X-linked 306400 CYBB Xp11.4
Cleidocranial dysplasia (CCD) 119600 RUNX2 6p21.1
Cohen, autosomal recessive * 216550 VPS13B 8q22.2
Congenital diaphragmatic hernia (CDH) 142340 Multiple
CHD2 candidate
NR2F2 candidate
15q26.1-q26.3
Congenital hemidysplasia with ichthyosiform erythroderma & limb defects (CHILD) 308050 NSDHL Xq28
Cornelia de Lange/Brachmann-de Lange 122470 NIPBL 5p13.2
Cowden/PTEN hamartoma tumor 158350 PTEN 10q23.31
Craniofrontonasal, X-linked 304110 EFNB1 Xq13.1
Cri-du-chat 123450 Multiple
TERT candidate
CTNND2 candidate
5p15.2-p15.33
Currarino 176450 MNX1 7q36.3
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D
Dandy-Walker malformation (DWM) 220200 Multiple
ZIC1 candidate
ZIC4 candidate
3q23-q25.1
Deafness 22, autosomal recessive 607039 OTOA 16p12.2
Diamond-Blackfan anemia 1 105650 RPS19 19q13.2
DiGeorge/Velocardiofacial (VCF)/
22q11.21 Microdeletion
188400/
192430
TBX1 22q11.21
DiGeorge 2 601362 Multiple 10p14
Dopa-responsive dystonia (DRD)/
Segawa
128230 GCH1 14q22.2
Dosage-sensitive sex reversal, X-linked * 300018 NR0B1 Xp21.2
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E
Early-onset ataxia with oculomotor apraxia & hypoalbuminemia, autosomal recessive 208920 APTX 9p21.1
Emery-Dreifuss muscular dystrophy,
X-linked (EDMD)
181350 EMD Xq28
EPHA7 haploinsufficiency/
6q16.1 Microdeletion
  EPHA7 6q15-q16.1
Epilepsy & intellectual disability restricted to females, X-linked/
Juberg-Hellman, X-linked/
Dravet-like, X-linked
300088 PCDH19 Xq22.1
Epileptic encephalopathy, SCN2A-related * 613721 SCN2A 2q24.3
Epileptic encephalopathy, STXBP1-related 612164 STXBP1 9q34.11
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F
Faciogenital dysplasia, X-linked/Aarskog-Scott, X-linked 305400 FGD1 Xp11.22
Familial adenomatous polyposis with intellectual disabilities (FAP-ID)/
5q22 Microdeletion
175100 APC 5q22.2
Feingold 164280 MYCN 2p24.3
FMR1 microdeletion, X-linked 300624 FMR1 Xq27.3
Focal dermal hypoplasia, X-linked/
Goltz, X-linked
305600 PORCN Xp11.23
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G
GLUT1 deficiency 606777 SLC2A1 1p34.2
Glycerol kinase deficiency, X-linked (GKD) 300474 GK Xp21.2
Greig cephalopolysyndactyly 175700 GLI3 7p14.1
Growth hormone insensitivity, autosomal recessive/
Laron, autosomal recessive
262500 GHR 5p12-p13.1
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H
Hemophilia A, X-linked 306700 F8 Xq28
Hemophilia B, X-linked 306900 F9 Xq27.1
Hereditary hemorrhagic telangiectasia, type 1/Osler-Rendu-Weber 187300 ENG 9q34.11
Hereditary hemorrhagic telangiectasia,
type 2
600376 ACVRL1 12q13.13
Hereditary paraganglioma-pheochromocytoma, SDHB-related 115310 SDHB 1p36.13
Hereditary paraganglioma-pheochromocytoma, SDHD-related 168000 SDHD 11q23.1
Heterotaxy, X-linked 306955 ZIC3 Xq26.3
Hirschsprung, EDNRB-related 600155 EDNRB 13q22.3
Hirschsprung, RET-related 142623 RET 10q11.21
Holoprosencephaly 1 236100 Multiple
TRAPPC10 candidate
PWP2 candidate
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 8 609408 Multiple 14q13.1-q13.3
Holt-Oram * 142900 TBX5 12q24.21
Hydrocephalus and nephrogenic diabetes insipidus, X-linked   L1CAM
AVPR2
Xq28
Hyper-IgE recurrent infection,
autosomal recessive
243700 DOCK8 9p24.3
Hypohidrotic ectodermal dysplasia,
X-linked (XHED)
305100 EDA Xq13.1
Hypoparathyroidism, sensorineural deafness, renal disease (HDR) 146255 GATA3 10p14
Hypospadius 2, X-linked 300758 MAMLD1 Xq28
Hypotonia-cystinuria, autosomal recessive 606407 SLC3A1
PREPL
2p21
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I
Idiopathic short stature, X- & Y-linked (ISSX) 300582 SHOX Xp22.33 & Yp11.32
Infantile hyperinsulinism with enteropathy & deafness, autosomal recessive 606528 USH1C
ABCC8
11p15.1
Infantile spasms, CDKL5-related,
X-linked/
Atypical Rett, CDKL5-related, X-linked
300672 CDKL5 Xp22.13
Infantile spasms, MAGI2-related   MAGI2 7q21.11
Intellectual disability with cerebellar hypoplasia & distinctive facial appearance,
X-linked/
Mental retardation 60, X-linked *
300486 OPHN1 Xq12
Intellectual disability with isolated growth hormone deficiency, X-linked* 300123 SOX3 Xq27.1
Intellectual disability with language impairment and autistic features 613670 FOXP1 3p13
Intellectual disability with microcephaly & disproportionate pontine and cerebellar hypoplasia, X-linked 300749 CASK Xp11.4
Intellectual disability with stereotypical movements, epilepsy, and/or cerebral malformations/
5q14.3 Microdeletion
613443 MEF2C 5q14.3
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J
Jacobsen/11q terminal deletion 147791 Multiple 11q23-q25
Joubert 4, autosomal recessive 609583 NPHP1 2q13
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, X-linked 308700 KAL1 Xp22.31
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L
Langer-Giedion/Trichorhinophalangeal
type II
150230 TRPS1
EXT1
8q23.3
8q24.11
Langer mesomelic dysplasia, X- & Y-linked (LMD) 249700 SHOX Xp22.33 & Yp11.32
Leri-Weill dyschondrosteosis, X- & Y-linked (LWD) 127300 SHOX Xp22.33 & Yp11.32
Lesch-Nyhan, X-linked (LNS) 300322 HPRT1 Xq26.2-q26.3
Li-Fraumeni 1 (LFS) 151623 TP53 17p13.1
Lissencephaly, X-linked 300067 DCX Xq23
Lissencephaly 1 607432 PAFAH1B1 (LIS1) 17p13.3
Lowe, X-linked 309000 OCRL Xq25-q26.1
Lymphoproliferative, X-linked (XLP) 308240 SH2D1A Xq25
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M
Marfan 1 (MFS1) 154700 FBN1 15q21.1
McLeod neuroacanthocytosis, X-linked 314850 XK Xp21.1
Menkes, X-linked (MNK) 309400 ATP7A Xq21.1
Mental retardation 1, autosomal dominant (MRD1) 156200 MBD5 2q23.1
Mental retardation 5, autosomal dominant 612621 SYNGAP1 6p21.32
Mental retardation 6, autosomal recessive 611092 GRIK2 6q16.3
Mental retardation 7, autosomal recessive 611093 TUSC3 8p22
Mental retardation 9, X-linked/
Mental retardation 44, X-linked
309549 FTSJ1 Xp11.23
Mental retardation 21, X-linked/
Mental retardation 34, X-linked
300143 IL1RAPL1 Xp21.2-p21.3
Mental retardation 94, X-linked * 300699 GRIA3 Xq25
Mesomelic dysplasia Kantaputra type * 156232 HOXD gene cluster candidate 2q31.1
Metachromatic leukodystrophy, autosomal recessive (MLD)/
Arylsulfatase A deficiency
250100 ARSA 22q13.33
Microphthalmia 3 206900 SOX2 3q26.33
Microphthalmia 7 with linear skin defects,
X-linked
309801 HCCS Xp22.2
Miller-Dieker 247200 PAFAH1B1 (LIS1) 17p13.3
Mohr-Tranebjaerg, X-linked/
Deafness-dystonia-optic neuropathy,
X-linked (DDON)
304700 TIMM8A Xq22.1
Mowat-Wilson * 235730 ZEB2 2q22.3
Myoclonus dystonia 159900 SGCE 7q21.3
Myotubular myopathy 1, X-linked 310400 MTM1 Xq28
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N
Nablus mask-like facial 608156 Multiple 8q22.1
Nail-patella (NPS) 161200 LMX1B 9q33.3
Neonatal hemolytic anemia associated with hemoglobin beta cluster/Epsilon-gamma-delta-beta thalassemia 141900 Hemoblobin beta gene cluster 11p15.4
Nephronophthisis 1, autosomal recessive 256100 NPHP1 2q13
Nephropathic cystinosis, autosomal recessive 219800 CTNS 17p13.2
Neurofibromatosis 1 with intellectual disabilities (NF1-ID)* 613675 NF1 17q11.2
Neurofibromatosis 2 (NF2) 101000 NF2 22q12.2
Neurosensory deafness, autosomal recessive (DFNB1) 220290 GJB6 13q12.11
NFIA haploinsufficiency/
1p31.3 Microdeletion
613735 NFIA 1p31.3
Norrie, X-linked * 310600 NDP Xp11.3
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O
Oculocutaneous albinism 2,
autosomal recessive (OCA2) *
203200 OCA2 15q12-q13.1
Oculofaciocardiodental, X-linked/
Microphthalmia 2, X-linked
300166 BCOR Xp11.4
Okihiro/
Duane radial ray (DRRS)
607323 SALL4 20q13.2
Opitz GBBB, X-linked 300000 MID1 Xp22.2
Ornithine transcarbamylase deficiency,
X-linked (OTC)
311250 OTC Xp11.4
Osteopathia striata with cranial sclerosis,
X-linked
300373 FAM123B Xq11.2
Oto-dental 166750 FGF3 11q13.3
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P
Pallister-Killian * 601803 Multiple 12p
Paris-Trousseau thrombocytopenia 188025 FLI1 11q24.3
Pelizaeus-Merzbacher, X-linked * 312080 PLP1 Xq22.2
Peutz-Jeghers (PJS) 175200 STK11 19p13.3
Pitt-Hopkins 610954 TCF4 18q21.2
Pitt-Hopkins-like 1, autosomal recessive/
Cortical dysplasia-focal epilepsy,
autosomal recessive (CDFE)
610042 CNTNAP2 7q35-q36.1
Polycystic kidney disease 1 (PKD1) 173900 PKD1 16p13.3
Potocki-Lupski/
17p11.2 Microduplication *
610883 Multiple
RAI1 candidate
17p11.2
Potocki-Shaffer 601224 EXT2
ALX4
11p11.2
Prader-Willi (PWS) 176270 SNORD116 cluster candidate 15q11.2
Prader-Willi-like phenotype 176270 Multiple
SIM1 candidate
6q16.1-q16.3
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R
Renal cysts and diabetes (RCAD) 137920 HNF1B 17q12
Retinoblastoma with intellectual disability 180200 RB1 13q14.2
Rett, congenital variant 613454 FOXG1 14q12
Rieger 1 (RIEG1)/
Axenfeld-Rieger
180500 PITX2 4q25
Rubinstein-Taybi (RTS) 180849 CREBBP 16p13.3
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S
Saethre-Chotzen 101400 TWIST1 7p21.1
Severe myoclonic epilepsy of infancy (SMEI)/
Dravet
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/
Pituitary hormone deficiency, combined, 4
262700 LHX4 1q25.2
Siderius type intellectual disability, X-linked 300263 PHF8 Xp11.22
Simpson-Golabi-Behmel, X-linked (SGBS) 312870 GPC3 Xq26.2
Smith-Magenis (SMS) 182290 RAI1 17p11.2
Sotos 117550 NSD1 5q35.2-q35.3
Speech & language disorder 1 602081 FOXP2 7q31.1
Split-hand/foot malformation 1 (SHFM1)/
Ectrodactyly
183600 SHFM1 7q21.3
Split-hand/foot malformation 3 (SHFM3)/
Ectrodactyly *
246560 FBXW4 10q24.32
Split-hand/foot malformation 5 (SHFM5)/
Ectrodactyly
606708 EVX2 candidate
HOXD gene cluster candidate
2q31.1
Steroid sulfatase deficiency, X-linked/
Ichthyosis, X-linked
308100 STS Xp22.31
Synpolydactyly/
Syndactyly II
186000 HOXD gene cluster 2q31.1
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T
Toe syndactyly, telecanthus, anogenital & renal malformations, X-linked (STAR) 300707 FAM58A Xq28
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) 613254 TSC2 16p13.3
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U
Ulnar-mammary 181450 TBX3 12q24.21
Usher IIC, autosomal recessive 605472 GPR98 5q14.3
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V
Van der Woude 119300 IRF6 1q32.2
von Hippel-Lindau 193300 VHL 3p25.3
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W
Waardenburg I 193500 PAX3 2q36.1
Waardenburg IIA 193510 MITF 3p13-p14.1
Waardenburg IIE 611584 SOX10 22q13.1
Waardenburg IVA/Waardenburg-Shah, autosomal recessive 277580 EDNRB 13q22.3
Waardenburg-Shah, neurologic variant/ Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg, and Hirschsprung (PCWH)/Waardenburg IVC

609136/
613266

SOX10 22q13.1
Walker-Warburg, LARGE-related, autosomal recessive/
Muscular dystrophy-dystroglycanopathy A1, autosomal recessive
236670 LARGE 22q12.3
Williams-Beuren (WBS) 194050 ELN 7q11.23
Wilms Tumor 1 (WT1) 194070 WT1 11p13
Wilms tumor-aniridia-genital anomalies-retardation (WAGR) 194072 PAX6
WT1
11p13
Wolf-Hirschhorn 194190 Multiple 4p16.3
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X
XX male/
SRY dosage abnormalities
400045 SRY Yp11.31
XY gonadal dysgenesis/
SRY dosage abnormalities
400044 SRY Yp11.31
XY sex-reversal, +/- adrenal failure/
46, XY sex reversal 3/
Adrenocortical insufficiency
612965 NR5A1 9q33.3
All 43 unique pericentromeric regions   Multiple 43 sites
All 41 unique subtelomeric regions   Multiple 41 sites
Aneuploidy for 24 chromosomes   Multiple 24 chromosomes
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