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Institute for Genomic Medicine (IGM) Clinical Laboratory (Nationwide Children's Hospital)

General information

Institute for Genomic Medicine (IGM) Clinical Laboratory
Nationwide Children's Hospital
700 Children's Drive
Columbus
Ohio
United States - 43205
https://www.nationwidechildrens.org/specialties/laboratory-services
Organization ID: 196472

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 271

Gene

GeneSubmissionsLast Updated
AARS11Dec 14, 2018
ABCC92May 21, 2020
ACP51Dec 14, 2018
ACTB1May 21, 2020
ADAT31Dec 14, 2018
AHDC11Dec 14, 2018
ALDH18A11Dec 14, 2018
ALK1Mar 4, 2021
AMPD21May 21, 2020
ANKRD114May 21, 2020
ANO51Dec 14, 2018
AP4M12May 21, 2020
AP4S11May 21, 2020
APC1Dec 14, 2018
APTX1Dec 14, 2018
ARID1A2Feb 13, 2020
ARID1B1May 21, 2020
ARID21Feb 13, 2020
ARX1Feb 13, 2020
ASIC4-AS11Dec 14, 2018
ASMT1Dec 14, 2018
ATN12Dec 14, 2018
ATP6V1A1May 21, 2020
ATXN11Dec 14, 2018
ATXN31Dec 14, 2018
ATXN72Dec 14, 2018
AUTS21Dec 14, 2018
B3GLCT1Dec 14, 2018
BCAP311Dec 14, 2018
BCOR1Dec 14, 2018
BRAF2Dec 14, 2018
BRCA12Dec 14, 2018
BRCA22Dec 14, 2018
C2CD32Dec 14, 2018
CACNA1B1Dec 14, 2018
CACNA1C1May 21, 2020
CACNA1S1Dec 14, 2018
CAMTA11May 21, 2020
CAV31May 21, 2020
CBL1Jun 15, 2021
CCDST3May 21, 2020
CCND21May 21, 2020
CDKL51Feb 13, 2020
CEP552Dec 14, 2018
CFHR51Dec 14, 2018
CFI1Dec 14, 2018
CFTR1Dec 14, 2018
CHD21May 21, 2020
CHD76May 21, 2020
CHRNB21Dec 14, 2018
COL11A11May 21, 2020
COL3A11May 21, 2020
COL5A11Dec 14, 2018
COL6A32Dec 14, 2018
CREBBP3May 21, 2020
CSF3R1Dec 14, 2018
CSNK2A12May 21, 2020
D2HGDH1Dec 14, 2018
DCHS11Dec 14, 2018
DDX3X2May 21, 2020
DHCR71Dec 14, 2018
DMXL21Dec 14, 2018
DNAI21Dec 14, 2018
DUOX21Dec 14, 2018
DVL11Dec 14, 2018
DYRK1A1May 21, 2020
EFTUD21May 21, 2020
EHMT13May 21, 2020
EPG51Dec 14, 2018
FBN11Dec 14, 2018
FGFR11Jan 29, 2022
FGFR31Dec 14, 2018
FLG3May 21, 2020
FOXG11May 21, 2020
FOXP12May 21, 2020
GABRB21May 21, 2020
GABRB31May 21, 2020
GABRG21May 21, 2020
GLI21Dec 14, 2018
GLIS31Dec 14, 2018
GMPPA1Dec 14, 2018
GRIN2A1Dec 14, 2018
HBB2May 21, 2020
HDAC81Dec 14, 2018
HNRNPK1May 21, 2020
HRAS1May 21, 2020
HTT1Dec 14, 2018
HYLS11May 21, 2020
IDUA1May 21, 2020
IFT1401May 21, 2020
IGFALS1Dec 14, 2018
IL10RA1Dec 14, 2018
IQSEC25May 21, 2020
ITGB31Dec 14, 2018
JAK21Mar 6, 2020
KANSL11May 21, 2020
KAT6B1Dec 14, 2018
KATNIP1Dec 14, 2018
KCNQ12Dec 14, 2018
KCNT11Dec 14, 2018
KDM5C2May 21, 2020
KERA1May 21, 2020
KMT2D1May 21, 2020
KRT851Dec 14, 2018
LAMA21Dec 14, 2018
LDLR1Dec 14, 2018
LOC1027240581May 21, 2020
LOC1053710461May 21, 2020
LOC1060990621May 21, 2020
LOC1071335102May 21, 2020
LOC1086639962Dec 14, 2018
LOC1094614842Dec 14, 2018
LOC1100063191May 21, 2020
LOC1116744771Dec 14, 2018
LOC1268056031May 21, 2020
LOC1268065731Dec 14, 2018
LOC1268625712Dec 14, 2018
LOC1299290271Dec 14, 2018
LOC1299375851May 21, 2020
LONP11Dec 14, 2018
LRRC561May 21, 2020
MAK1Dec 14, 2018
MEA11May 21, 2020
MECP21May 21, 2020
MED122May 21, 2020
MED13L1May 21, 2020
MED252May 21, 2020
MET1Sep 25, 2020
MYH72Dec 14, 2018
MYT1L2May 21, 2020
NAA101May 21, 2020
NADSYN11Dec 14, 2018
NBEA1May 21, 2020
NEB1Dec 14, 2018
NEDD4L1May 21, 2020
NLGN4X1Dec 14, 2018
NLRP121Dec 14, 2018
NOTCH11May 21, 2020
NPHP3-ACAD112May 21, 2020
NSD26May 21, 2020
NUBPL1May 21, 2020
OPA12May 21, 2020
OXTR1May 21, 2020
PARN1May 21, 2020
PIGA2May 21, 2020
PIK3R19Feb 3, 2021
PIK3R21Feb 13, 2020
PKP23Dec 14, 2018
POLD11Dec 14, 2018
POLR3B1May 21, 2020
PPP2R1A1Jun 15, 2021
PPP2R5D1May 21, 2020
PRF11Dec 14, 2018
PRKAG21Dec 14, 2018
PRODH1Dec 14, 2018
PRRC2B1Mar 4, 2021
PTPN112May 21, 2020
PUF602May 21, 2020
PUS31May 21, 2020
PYCR11May 21, 2020
RAI12May 21, 2020
RBM281Dec 14, 2018
RBPMS1Sep 25, 2020
RNASEH2B1Jan 4, 2023
RPS241Dec 14, 2018
RPS6KA32May 21, 2020
RTEL11Dec 14, 2018
RTEL1-TNFRSF6B1Dec 14, 2018
RYR13May 21, 2020
RYR21Dec 14, 2018
SALL11May 21, 2020
SAMHD12May 21, 2020
SATB22May 21, 2020
SCAMP41Dec 14, 2018
SCN1A1May 21, 2020
SCN1B1Dec 14, 2018
SCN8A1May 21, 2020
SEC23B1Dec 14, 2018
SERPINC11May 21, 2020
SETBP11Dec 14, 2018
SETD51May 21, 2020
SHANK31May 21, 2020
SLC17A52May 21, 2020
SLC22A52May 21, 2020
SLC2A12May 21, 2020
SLC6A32May 21, 2020
SLC6A81Dec 14, 2018
SLX41Dec 14, 2018
SMAD41May 21, 2020
SMARCA21Dec 14, 2018
SMC1A1May 21, 2020
SMPD11Dec 14, 2018
SON1May 21, 2020
SRCAP3Dec 14, 2018
SRD5A22May 21, 2020
STXBP12May 21, 2020
SYNE11Dec 14, 2018
SYNGAP11May 21, 2020
SYNGAP1-AS11May 21, 2020
TAOK11Dec 21, 2021
TBCD2May 21, 2020
TBL1XR11May 21, 2020
TBP2Dec 14, 2018
TBX11May 21, 2020
TCF41May 21, 2020
TCN21Dec 14, 2018
TDP11Dec 14, 2018
TECPR21Dec 14, 2018
TGFBR11Dec 14, 2018
TGM61Dec 14, 2018
TMIE1Dec 14, 2018
TRIP121Feb 13, 2020
TRNT12May 21, 2020
TSC21Dec 14, 2018
TUBB4A1May 21, 2020
UBA52May 21, 2020
USP9X1Dec 14, 2018
ZBTB201Mar 6, 2020
ZEB22May 21, 2020
ZNF4691Dec 14, 2018
ZSWIM61Dec 14, 2018

Condition

NameSubmissionsLast Updated
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency2May 21, 2020
4p partial monosomy syndrome3May 21, 2020
8q24.3 microdeletion syndrome1May 21, 2020
Abortive cerebellar ataxia2May 21, 2020
Adams-Oliver syndrome 51May 21, 2020
Aicardi-Goutieres syndrome 21Jan 4, 2023
Aicardi-Goutieres syndrome 52May 21, 2020
Aortic valve disease 11May 21, 2020
Au-Kline syndrome1May 21, 2020
Autism, susceptibility to, X-linked 31May 21, 2020
Autosomal dominant optic atrophy classic form2May 21, 2020
Autosomal recessive cutis laxa type 2B1May 21, 2020
Baraitser-Winter syndrome 11May 21, 2020
Blepharophimosis - intellectual disability syndrome, MKB type1May 21, 2020
Brugada syndrome 31May 21, 2020
CBL-related disorder1Jun 15, 2021
CHARGE syndrome2May 21, 2020
Cardiac anomalies - developmental delay - facial dysmorphism syndrome1May 21, 2020
Cardiovascular phenotype1Dec 14, 2018
Central core myopathy3May 21, 2020
Cerebellar dysfunction with variable cognitive and behavioral abnormalities1May 21, 2020
Charcot-Marie-Tooth disease type 2B22May 21, 2020
Childhood onset GLUT1 deficiency syndrome 22May 21, 2020
Chromosome 2q32-q33 deletion syndrome2May 21, 2020
Clark-Baraitser syndrome1Feb 13, 2020
Classic dopamine transporter deficiency syndrome2May 21, 2020
Coffin-Lowry syndrome2May 21, 2020
Coffin-Siris syndrome 11May 21, 2020
Coffin-Siris syndrome 61Feb 13, 2020
Cognitive impairment with or without cerebellar ataxia1May 21, 2020
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome2May 21, 2020
Congenital fibrosarcoma1Sep 25, 2020
Congenital multicore myopathy with external ophthalmoplegia3May 21, 2020
Congenital muscular hypertrophy-cerebral syndrome1May 21, 2020
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome2May 21, 2020
Cornea plana 21May 21, 2020
Corneal dystrophy, Fuchs endothelial, 31May 21, 2020
Costello syndrome1May 21, 2020
DYRK1A-related intellectual disability syndrome1May 21, 2020
Dermatitis, atopic, 22May 21, 2020
Developmental and epileptic encephalopathy 941May 21, 2020
Developmental and epileptic encephalopathy, 11Feb 13, 2020
Developmental and epileptic encephalopathy, 131May 21, 2020
Developmental and epileptic encephalopathy, 21Feb 13, 2020
Developmental and epileptic encephalopathy, 42May 21, 2020
Developmental and epileptic encephalopathy, 431May 21, 2020
Developmental and epileptic encephalopathy, 442May 21, 2020
Developmental and epileptic encephalopathy, 741May 21, 2020
Developmental delay with or without intellectual impairment or behavioral abnormalities1Dec 21, 2021
Developmental malformations-deafness-dystonia syndrome1May 21, 2020
DiGeorge syndrome1May 21, 2020
Distal myopathy, Tateyama type1May 21, 2020
Dyskeratosis congenita, autosomal recessive 61May 21, 2020
Dystonia 92May 21, 2020
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome2May 21, 2020
Ehlers-Danlos syndrome, type 41May 21, 2020
Elevated circulating creatine kinase concentration1May 21, 2020
Encephalopathy due to GLUT1 deficiency2May 21, 2020
Eosinophilia1Mar 6, 2020
Epilepsy, childhood absence 21May 21, 2020
Epileptic encephalopathy, infantile or early childhood, 21May 21, 2020
Epileptic encephalopathy, infantile or early childhood, 31May 21, 2020
FG syndrome 11May 21, 2020
Fibrochondrogenesis 11May 21, 2020
Generalized epilepsy with febrile seizures plus, type 21May 21, 2020
Generalized juvenile polyposis/juvenile polyposis coli1May 21, 2020
Hb SS disease2May 21, 2020
Hereditary antithrombin deficiency1May 21, 2020
Hereditary cryohydrocytosis with reduced stomatin2May 21, 2020
Hereditary spastic paraplegia 502May 21, 2020
Hereditary spastic paraplegia 631May 21, 2020
Hogue-Janssens syndrome 11May 21, 2020
Houge-Janssens syndrome 21Jun 15, 2021
Hurler syndrome1May 21, 2020
Hydrolethalus syndrome 11May 21, 2020
Hypertrichotic osteochondrodysplasia Cantu type1May 21, 2020
Hypertrophic cardiomyopathy 11May 21, 2020
Hypogonadotropic hypogonadism 5 with or without anosmia1May 21, 2020
Hypomyelinating leukodystrophy 61May 21, 2020
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism1May 21, 2020
Ichthyosis vulgaris2May 21, 2020
Intellectual disability and seizures1May 21, 2020
Intellectual disability, X-linked 15May 21, 2020
Intellectual disability, X-linked 1022May 21, 2020
Intellectual disability, autosomal dominant 141Feb 13, 2020
Intellectual disability, autosomal dominant 392May 21, 2020
Intellectual disability, autosomal dominant 411May 21, 2020
Intellectual disability, autosomal dominant 51May 21, 2020
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1May 21, 2020
Intellectual disability-severe speech delay-mild dysmorphism syndrome1May 21, 2020
Juvenile myelomonocytic leukemia1Jun 15, 2021
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome1May 21, 2020
KBG syndrome3May 21, 2020
Kabuki syndrome 11May 21, 2020
Kleefstra syndrome 13May 21, 2020
Koolen-de Vries syndrome1May 21, 2020
LEOPARD syndrome 12May 21, 2020
Long QT syndrome 91May 21, 2020
Mandibulofacial dysostosis-microcephaly syndrome1May 21, 2020
Marshall syndrome1May 21, 2020
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11Feb 13, 2020
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 31May 21, 2020
Metachondromatosis2May 21, 2020
Microphthalmia, syndromic 11May 21, 2020
Migraine, familial hemiplegic, 31May 21, 2020
Mitochondrial complex 1 deficiency, nuclear type 211May 21, 2020
Mowat-Wilson syndrome2May 21, 2020
Mucopolysaccharidosis, MPS-I-H/S1May 21, 2020
Mucopolysaccharidosis, MPS-I-S1May 21, 2020
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome2Dec 14, 2018
Multiple congenital anomalies-hypotonia-seizures syndrome 22May 21, 2020
Myeloproliferative disorder1Mar 6, 2020
Myhre syndrome1May 21, 2020
Noonan syndrome 12May 21, 2020
Ogden syndrome1May 21, 2020
Okur-Chung neurodevelopmental syndrome2May 21, 2020
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy2May 21, 2020
PYCR1-related de Barsy syndrome1May 21, 2020
Paroxysmal nocturnal hemoglobinuria 12May 21, 2020
Periventricular nodular heterotopia 71May 21, 2020
Phelan-McDermid syndrome1May 21, 2020
Pierpont syndrome1May 21, 2020
Pitt-Hopkins syndrome1May 21, 2020
Pontocerebellar hypoplasia type 91May 21, 2020
Precursor B-cell acute lymphoblastic leukemia1Mar 6, 2020
RASopathy2Dec 14, 2018
Renal carnitine transport defect2May 21, 2020
Retinitis pigmentosa 801May 21, 2020
Retinitis pigmentosa and erythrocytic microcytosis2May 21, 2020
Rett syndrome1May 21, 2020
Rett syndrome, congenital variant1May 21, 2020
Rippling muscle disease 21May 21, 2020
Rubinstein-Taybi syndrome due to CREBBP mutations3May 21, 2020
Saldino-Mainzer syndrome1May 21, 2020
Salla disease2May 21, 2020
Seizures, benign familial infantile, 51May 21, 2020
Severe myoclonic epilepsy in infancy1May 21, 2020
Severe neonatal-onset encephalopathy with microcephaly1May 21, 2020
Sialic acid storage disease, severe infantile type2May 21, 2020
Smith-Magenis syndrome1May 21, 2020
Spastic paraplegia 52, autosomal recessive1May 21, 2020
Stickler syndrome type 21May 21, 2020
Syndromic X-linked intellectual disability Claes-Jensen type1May 21, 2020
Syndromic X-linked intellectual disability Lubs type1May 21, 2020
Tetralogy of Fallot1May 21, 2020
Timothy syndrome1May 21, 2020
Torsion dystonia 41May 21, 2020
Townes-Brocks syndrome 11May 21, 2020
Transposition of the great arteries, dextro-looped1May 21, 2020
Vascular Malformations and Overgrowth9Feb 3, 2021
Velocardiofacial syndrome1May 21, 2020
Wolf-Hirschhorn like syndrome3Dec 14, 2018
X-linked intellectual disability with marfanoid habitus1May 21, 2020
X-linked intellectual disability-psychosis-macroorchidism syndrome1May 21, 2020
ZTTK syndrome1May 21, 2020
epithelioid tumor of the omentum1Mar 4, 2021
not specified115Dec 14, 2018
spinal cord mass1Jan 29, 2022

Testing in GTR

Disease nameNumber of tests
10q partial trisomy syndrome9 tests
10q22.3q23.3 microduplication syndrome1 test
11p15.4 microduplication syndrome1 test
11q partial monosomy syndrome9 tests
11q22.2q22.3 microdeletion syndrome1 test
12p12.1 microdeletion syndrome1 test
12q14 microdeletion syndrome1 test
12q15q21.1 microdeletion syndrome1 test
13q partial monosomy syndrome9 tests
13q12.3 microdeletion syndrome1 test
14q11.2 microduplication syndrome1 test
14q12 microdeletion syndrome1 test
14q24.1q24.3 microdeletion syndrome1 test
14q32 duplication syndrome1 test
15q11q13 microduplication syndrome1 test
15q14 microdeletion syndrome1 test
16p11.2p12.2 microduplication syndrome1 test
16p13.11 microdeletion syndrome1 test
16p13.11 microduplication syndrome1 test
16q24.1 microdeletion syndrome1 test
16q24.3 microdeletion syndrome1 test
17q11.2 microduplication syndrome1 test
18q partial monosomy syndrome9 tests
19p13.12 microdeletion syndrome1 test
19p13.3 microduplication syndrome1 test
1p21.3 microdeletion syndrome1 test
1p35.2 microdeletion syndrome1 test
1q44 microdeletion syndrome1 test
20p12.3 microdeletion syndrome1 test
20p13 microdeletion syndrome1 test
20q11.2 microdeletion syndrome1 test
20q11.2 microduplication syndrome1 test
20q13.33 microdeletion syndrome1 test
21q22.11q22.12 microdeletion syndrome1 test
22q partial monosomy9 tests
22q11.2 deletion syndrome2 tests
2p13.2 microdeletion syndrome1 test
2p21 microdeletion syndrome1 test
2p21 microdeletion syndrome without cystinuria1 test
2q23.1 microdeletion syndrome1 test
2q23.1 microduplication syndrome1 test
2q24 microdeletion syndrome1 test
2q31.1 microdeletion syndrome1 test
2q33.1 microdeletion syndrome1 test
3p- syndrome9 tests
3p25.3 microdeletion syndrome1 test
3q partial trisomy syndrome9 tests
3q26 microduplication syndrome1 test
3q26q27 microdeletion syndrome1 test
3q27.3 microdeletion syndrome1 test
4p partial monosomy syndrome9 tests
4p16.3 microduplication syndrome1 test
4q25 proximal deletion syndrome1 test
5p partial monosomy syndrome9 tests
5q14.3 microdeletion syndrome1 test
5q22 deletion syndrome1 test
5q35 microduplication syndrome1 test
6p22 microdeletion syndrome1 test
6q partial trisomy syndrome9 tests
6q terminal deletion syndrome1 test
6q16 deletion syndrome1 test
7p22.1 microduplication syndrome1 test
7q11.23 microduplication syndrome1 test
7q31 microdeletion syndrome1 test
8p inverted duplication/deletion syndrome9 tests
8p11.2 deletion syndrome1 test
8p23.1 duplication syndrome1 test
8p23.1 microdeletion syndrome1 test
8q22.1 microdeletion syndrome1 test
9p partial trisomy syndrome9 tests
9p13 microdeletion syndrome1 test
9q31.1q31.3 microdeletion syndrome1 test
9q33.3q34.11 microdeletion syndrome1 test
Alagille syndrome due to 20p12 microdeletion1 test
Alveolar rhabdomyosarcoma1 test
Aneuploidy, chromosomal rearrangements, chromosomal deletion, chromosomal duplication9 tests
Angelman syndrome1 test
Angelman syndrome due to maternal 15q11q13 deletion1 test
Anomaly of sex chromosome10 tests
Astrocytoma1 test
Atypical Norrie disease due to monosomy Xp11.39 tests
Autism spectrum disorder1 test
Autosomal chromosomal disorder10 tests
Autosomal monosomy9 tests
Autosomal trisomy9 tests
Beckwith-Wiedemann syndrome due to 11p15 microdeletion1 test
Beckwith-Wiedemann syndrome due to 11p15 microduplication1 test
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion8 tests
Brain glioma1 test
CHROMOSOME 1qter DELETION SYNDROME1 test
Cerebellar ataxia1 test
Chromosome 1, deletion q21 q259 tests
Chromosome 1, duplication 1p21 p321 test
Chromosome 1, monosomy 1p22 p139 tests
Chromosome 1, monosomy 1p31 p229 tests
Chromosome 1, monosomy 1p329 tests
Chromosome 1, monosomy 1p34 p329 tests
Chromosome 1, monosomy 1q25 q329 tests
Chromosome 1, monosomy 1q32 q429 tests
Chromosome 1, trisomy 1q32 qter9 tests
Chromosome 1, trisomy 1q42-qter9 tests
Chromosome 10, trisomy 10pter p139 tests
Chromosome 10q duplication syndrome9 tests
Chromosome 10q23 deletion syndrome1 test
Chromosome 11, deletion 11p9 tests
Chromosome 11, partial trisomy 11q9 tests
Chromosome 11;14 translocation8 tests
Chromosome 11p13 deletion syndrome, distal1 test
Chromosome 11q trisomy9 tests
Chromosome 12p deletion9 tests
Chromosome 13, partial monosomy 13q9 tests
Chromosome 13p duplication1 test
Chromosome 13q trisomy9 tests
Chromosome 13q14 deletion syndrome1 test
Chromosome 13q33-q34 deletion syndrome1 test
Chromosome 14 deletion9 tests
Chromosome 14 trisomy9 tests
Chromosome 14, deletion 14q, partial duplication 14p9 tests
Chromosome 14;16 translocation8 tests
Chromosome 14q, proximal duplication1 test
Chromosome 14q11-q22 deletion syndrome1 test
Chromosome 15, distal trisomy 15q9 tests
Chromosome 15q duplication mosaicism1 test
Chromosome 15q11.2 deletion syndrome1 test
Chromosome 15q11.2 duplication syndrome1 test
Chromosome 15q13.3 microdeletion syndrome1 test
Chromosome 15q24 deletion syndrome1 test
Chromosome 15q25 deletion syndrome1 test
Chromosome 15q26-qter deletion syndrome9 tests
Chromosome 16 trisomy9 tests
Chromosome 16p11.2 duplication syndrome1 test
Chromosome 16p12.1 deletion syndrome, 520kb1 test
Chromosome 16p12.2-p11.2 deletion syndrome1 test
Chromosome 16p13.3 duplication syndrome1 test
Chromosome 16q22 deletion syndrome1 test
Chromosome 17, deletion 17q23 q241 test
Chromosome 17, duplication1 test
Chromosome 17P13.3, telomeric, duplication syndrome1 test
Chromosome 17p deletion9 tests
Chromosome 17p13.1 deletion syndrome1 test
Chromosome 17p13.3 duplication syndrome1 test
Chromosome 17q11.2 deletion syndrome, 1.4Mb1 test
Chromosome 17q12 deletion syndrome1 test
Chromosome 17q12 duplication syndrome1 test
Chromosome 17q21.31 duplication syndrome1 test
Chromosome 17q23.1-q23.2 deletion syndrome1 test
Chromosome 18 mosaic monosomy8 tests
Chromosome 18 pericentric inversion8 tests
Chromosome 19 ring syndrome8 tests
Chromosome 19p13.13 deletion syndrome1 test
Chromosome 19q13.11 deletion syndrome, distal1 test
Chromosome 19q13.11 deletion syndrome, proximal1 test
Chromosome 1p35 deletion syndrome1 test
Chromosome 1p36 deletion syndrome9 tests
Chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant1 test
Chromosome 1q deletion9 tests
Chromosome 1q, duplication 1q12 q211 test
Chromosome 1q21.1 deletion syndrome1 test
Chromosome 1q21.1 duplication syndrome1 test
Chromosome 1q41-q42 deletion syndrome1 test
Chromosome 2, duplication(2)(p13)(p21)1 test
Chromosome 2, monosomy 2p229 tests
Chromosome 2, monosomy 2pter p249 tests
Chromosome 2, trisomy 2pter p241 test
Chromosome 2, trisomy 2q371 test
Chromosome 21, monosomy 21q229 tests
Chromosome 22, trisomy q11 q139 tests
Chromosome 22q11.2 deletion syndrome, distal1 test
Chromosome 22q11.2 microduplication syndrome1 test
Chromosome 22q13 duplication syndrome1 test
Chromosome 2p12-p11.2 deletion syndrome1 test
Chromosome 2p16.1-p15 deletion syndrome1 test
Chromosome 2q23.1 deletion syndrome1 test
Chromosome 2q23.1 duplication syndrome1 test
Chromosome 2q31.1 duplication syndrome1 test
Chromosome 2q31.2 deletion syndrome1 test
Chromosome 2q32-q33 deletion syndrome1 test
Chromosome 2q37 deletion syndrome1 test
Chromosome 3 duplication syndrome1 test
Chromosome 3, monosomy 3p14 p119 tests
Chromosome 3, monosomy 3q139 tests
Chromosome 3, monosomy 3q21 239 tests
Chromosome 3, monosomy 3q279 tests
Chromosome 3, trisomy 3p9 tests
Chromosome 3, trisomy 3p251 test
Chromosome 3, trisomy 3q13 2 q259 tests
Chromosome 3q13.31 deletion syndrome1 test
Chromosome 3q29 microdeletion syndrome1 test
Chromosome 3q29 microduplication syndrome1 test
Chromosome 4 short arm deletion9 tests
Chromosome 4, Trisomy 4p9 tests
Chromosome 4, monosomy 4p14 p169 tests
Chromosome 4, monosomy 4q329 tests
Chromosome 4, monosomy distal 4q9 tests
Chromosome 4, partial trisomy distal 4q9 tests
Chromosome 4, trisomy 4q211 test
Chromosome 4, trisomy 4q25 qter9 tests
Chromosome 4q21 deletion syndrome1 test
Chromosome 5, trisomy 5p9 tests
Chromosome 5, trisomy 5pter p13 39 tests
Chromosome 5Q14.3 deletion syndrome, distal1 test
Chromosome 5p13 duplication syndrome1 test
Chromosome 5q12 deletion syndrome1 test
Chromosome 5q14.3 deletion syndrome1 test
Chromosome 6, deletion 6q13 q159 tests
Chromosome 6, monosomy 6p231 test
Chromosome 6, monosomy 6q19 tests
Chromosome 6, monosomy 6q29 tests
Chromosome 6pter-p24 deletion syndrome9 tests
Chromosome 6q11-q14 deletion syndrome9 tests
Chromosome 6q24-q25 deletion syndrome9 tests
Chromosome 7, monosomy9 tests
Chromosome 7, monosomy 7q29 tests
Chromosome 7, monosomy 7q219 tests
Chromosome 7, monosomy 7q39 tests
Chromosome 7, partial monosomy 7p9 tests
Chromosome 7, trisomy 7p13 p12 21 test
Chromosome 8 deletion9 tests
Chromosome 8, monosomy 8p9 tests
Chromosome 8, monosomy 8p29 tests
Chromosome 8, partial trisomy9 tests
Chromosome 8-derived supernumerary ring/marker8 tests
Chromosome 8Q12.1-q21.2 deletion syndrome9 tests
Chromosome 8q21.11 deletion syndrome1 test
Chromosome 9 translocation8 tests
Chromosome 9, deletion 9q21.33q22.321 test
Chromosome 9, duplication 9q211 test
Chromosome 9, trisomy 9p9 tests
Chromosome 9, trisomy 9q9 tests
Chromosome 9, trisomy 9q321 test
Chromosome 9p deletion syndrome9 tests
Chromosome 9q duplication1 test
Chromosome Xp11.23-p11.22 duplication syndrome1 test
Chromosome Xp21 deletion syndrome1 test
Chromosome Xq28 duplication syndrome1 test
Chromosomes 1 and 2, monosomy 2q duplication 1p9 tests
Classic medulloblastoma1 test
Complete trisomy 13 syndrome8 tests
Complete trisomy 20 syndrome8 tests
Complete trisomy 21 syndrome8 tests
Congenital chromosomal disease10 tests
Cystic fibrosis1 test
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion1 test
DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion1 test
Deletion 5q351 test
Deletion 6q16 q219 tests
Deletion of long arm of chromosome 139 tests
Deletion of long arm of chromosome 189 tests
Deletion of short arm of chromosome 189 tests
DiGeorge syndrome2 tests
Distal 10q deletion syndrome1 test
Distal 16p11.2 microdeletion syndrome1 test
Distal 17p13.1 microdeletion syndrome1 test
Distal 17p13.3 microdeletion syndrome1 test
Distal 22q11.2 microduplication syndrome1 test
Distal 7q11.23 microdeletion syndrome1 test
Distal 7q11.23 microduplication syndrome1 test
Distal Xq28 microduplication syndrome1 test
Distal monosomy 12p9 tests
Distal monosomy 12q9 tests
Distal monosomy 14q9 tests
Distal monosomy 17q9 tests
Distal monosomy 19p13.39 tests
Distal monosomy 1q9 tests
Distal monosomy 20q9 tests
Distal monosomy 4q9 tests
Distal monosomy 7p9 tests
Distal monosomy 7q369 tests
Distal monosomy 9p syndrome9 tests
Distal trisomy 10q9 tests
Distal trisomy 11q9 tests
Distal trisomy 13q9 tests
Distal trisomy 14q9 tests
Distal trisomy 15q9 tests
Distal trisomy 16q9 tests
Distal trisomy 17q9 tests
Distal trisomy 18q9 tests
Distal trisomy 19q9 tests
Distal trisomy 1p369 tests
Distal trisomy 20q9 tests
Distal trisomy 22q9 tests
Distal trisomy 2p9 tests
Distal trisomy 2q9 tests
Distal trisomy 3p9 tests
Distal trisomy 4q9 tests
Distal trisomy 5q9 tests
Distal trisomy 6p9 tests
Distal trisomy 6q9 tests
Distal trisomy 7p9 tests
Distal trisomy 8q9 tests
Distal trisomy 9q9 tests
Duplication/inversion 15q111 test
Extraskeletal Ewing sarcoma1 test
Familial adenomatous polyposis due to 5q22.2 microdeletion1 test
Familial clubfoot due to 17q23.1q23.2 microduplication1 test
Familial clubfoot due to 5q31 microdeletion1 test
Familial monosomy 7 syndrome8 tests
Fragile X syndrome1 test
Fragile X-associated tremor/ataxia syndrome1 test
Galactosylceramide beta-galactosidase deficiency2 tests
Glioblastoma1 test
Glioma1 test
Hao-Fountain syndrome1 test
Hematologic neoplasm1 test
Hereditary disease1 test
Holoprosencephaly deletion 2p1 test
Homozygous 11P15-p14 deletion syndrome1 test
Homozygous 2p21 microdeletion syndrome1 test
Hurler syndrome1 test
Infantile Krabbe disease2 tests
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies1 test
Kleefstra syndrome due to 9q34 microdeletion1 test
Known OR suspected fetal abnormality affecting management of mother1 test
Maternal 14q32.2 microdeletion syndrome1 test
Maternal care for suspected chromosomal abnormality in fetus1 test
Medulloblastoma2 tests
Microdeletion / Duplication Syndromes, Absence of Heterozygosity, Aneuploidy1 test
Monosomy9 tests
Monosomy 13q349 tests
Monosomy 219 tests
Monosomy 229 tests
Monosomy 8q12 219 tests
Monosomy 8q21 q229 tests
Monosomy 9q22.31 test
Monosomy X9 tests
Mosaic trisomy 18 tests
Mosaic trisomy 108 tests
Mosaic trisomy 128 tests
Mosaic trisomy 148 tests
Mosaic trisomy 158 tests
Mosaic trisomy 178 tests
Mosaic trisomy 28 tests
Mosaic trisomy 208 tests
Mosaic trisomy 228 tests
Mosaic trisomy 38 tests
Mosaic trisomy 48 tests
Mosaic trisomy 58 tests
Mosaic trisomy 78 tests
Mosaic trisomy 88 tests
Mosaic trisomy 98 tests
Mosaic variegated aneuploidy syndrome8 tests
Mowat-Wilson syndrome due to monosomy 2q221 test
Mucopolysaccharidosis type 11 test
Mucopolysaccharidosis, MPS-I-H/S1 test
Mucopolysaccharidosis, MPS-I-S1 test
Myelodysplastic syndrome associated with isolated del(5q)9 tests
Nephroblastoma1 test
Neuroblastoma4 tests
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion1 test
Non-distal monosomy 10q9 tests
Non-distal monosomy 12q9 tests
Non-distal monosomy 20q9 tests
Non-distal trisomy 10q9 tests
Non-distal trisomy 13q9 tests
Non-distal trisomy 9q9 tests
Okihiro syndrome due to 20q13 microdeletion1 test
Partial autosomal deletion9 tests
Partial autosomal duplication/triplication9 tests
Partial chromosome Y deletion9 tests
Partial deletion of Y9 tests
Partial deletion of chromosome 19 tests
Partial deletion of chromosome 109 tests
Partial deletion of chromosome 119 tests
Partial deletion of chromosome 129 tests
Partial deletion of chromosome 169 tests
Partial deletion of chromosome 179 tests
Partial deletion of chromosome 189 tests
Partial deletion of chromosome 199 tests
Partial deletion of chromosome 29 tests
Partial deletion of chromosome 209 tests
Partial deletion of chromosome 39 tests
Partial deletion of chromosome 49 tests
Partial deletion of chromosome 59 tests
Partial deletion of chromosome 69 tests
Partial deletion of chromosome 79 tests
Partial deletion of chromosome 89 tests
Partial deletion of chromosome 99 tests
Partial deletion of chromosome X9 tests
Partial deletion of the long arm of chromosome 119 tests
Partial deletion of the long arm of chromosome 129 tests
Partial deletion of the long arm of chromosome 149 tests
Partial deletion of the long arm of chromosome 159 tests
Partial deletion of the long arm of chromosome 169 tests
Partial deletion of the long arm of chromosome 179 tests
Partial deletion of the long arm of chromosome 199 tests
Partial deletion of the long arm of chromosome 29 tests
Partial deletion of the long arm of chromosome 209 tests
Partial deletion of the long arm of chromosome 219 tests
Partial deletion of the long arm of chromosome 39 tests
Partial deletion of the long arm of chromosome 49 tests
Partial deletion of the long arm of chromosome 59 tests
Partial deletion of the long arm of chromosome 69 tests
Partial deletion of the long arm of chromosome 79 tests
Partial deletion of the long arm of chromosome 89 tests
Partial deletion of the long arm of chromosome X9 tests
Partial deletion of the short arm of chromosome 19 tests
Partial deletion of the short arm of chromosome 109 tests
Partial deletion of the short arm of chromosome 119 tests
Partial deletion of the short arm of chromosome 169 tests
Partial deletion of the short arm of chromosome 199 tests
Partial deletion of the short arm of chromosome 29 tests
Partial deletion of the short arm of chromosome 39 tests
Partial deletion of the short arm of chromosome 59 tests
Partial deletion of the short arm of chromosome 69 tests
Partial deletion of the short arm of chromosome 79 tests
Partial deletion of the short arm of chromosome 89 tests
Partial deletion of the short arm of chromosome 99 tests
Partial duplication of chromosome 19 tests
Partial duplication of chromosome 109 tests
Partial duplication of chromosome 119 tests
Partial duplication of chromosome 169 tests
Partial duplication of chromosome 179 tests
Partial duplication of chromosome 199 tests
Partial duplication of chromosome 29 tests
Partial duplication of chromosome 39 tests
Partial duplication of chromosome 49 tests
Partial duplication of chromosome 69 tests
Partial duplication of chromosome 79 tests
Partial duplication of chromosome 89 tests
Partial duplication of chromosome X9 tests
Partial duplication of the long arm of chromosome 19 tests
Partial duplication of the long arm of chromosome 129 tests
Partial duplication of the long arm of chromosome 149 tests
Partial duplication of the long arm of chromosome 159 tests
Partial duplication of the long arm of chromosome 179 tests
Partial duplication of the long arm of chromosome 199 tests
Partial duplication of the long arm of chromosome 29 tests
Partial duplication of the long arm of chromosome 229 tests
Partial duplication of the long arm of chromosome 39 tests
Partial duplication of the long arm of chromosome 49 tests
Partial duplication of the long arm of chromosome 69 tests
Partial duplication of the long arm of chromosome 79 tests
Partial duplication of the long arm of chromosome 89 tests
Partial duplication of the long arm of chromosome X9 tests
Partial duplication of the short arm of chromosome 19 tests
Partial duplication of the short arm of chromosome 109 tests
Partial duplication of the short arm of chromosome 119 tests
Partial duplication of the short arm of chromosome 169 tests
Partial duplication of the short arm of chromosome 179 tests
Partial duplication of the short arm of chromosome 199 tests
Partial duplication of the short arm of chromosome 29 tests
Partial duplication of the short arm of chromosome 39 tests
Partial duplication of the short arm of chromosome 49 tests
Partial duplication of the short arm of chromosome 69 tests
Partial duplication of the short arm of chromosome 79 tests
Partial duplication of the short arm of chromosome 89 tests
Partial duplication of the short arm of chromosome X9 tests
Partial monosomy of the long arm of chromosome 109 tests
Partial monosomy of the long arm of chromosome 99 tests
Partial monosomy of the short arm of chromosome 209 tests
Partial monosomy of the short arm of chromosome X9 tests
Partial trisomy of chromosome 209 tests
Partial trisomy of the long arm of chromosome 169 tests
Partial trisomy of the long arm of chromosome 189 tests
Partial trisomy of the long arm of chromosome 209 tests
Partial trisomy of the long arm of chromosome 59 tests
Partial trisomy of the long arm of chromosome 99 tests
Partial trisomy/tetrasomy of chromosome 189 tests
Partial trisomy/tetrasomy of chromosome 59 tests
Partial trisomy/tetrasomy of chromosome 99 tests
Partial trisomy/tetrasomy of the short arm of chromosome 129 tests
Partial trisomy/tetrasomy of the short arm of chromosome 189 tests
Partial trisomy/tetrasomy of the short arm of chromosome 59 tests
Paternal 14q32.2 microdeletion syndrome1 test
Paternal 20q13.2q13.3 microdeletion syndrome1 test
Phelan-McDermid syndrome1 test
Pineoblastoma1 test
Pleomorphic xanthoastrocytoma1 test
Prader-Willi syndrome1 test
Prader-Willi syndrome due to paternal 15q11q13 deletion1 test
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 11 test
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 21 test
Prader-Willi syndrome due to translocation8 tests
Premature ovarian failure1 test
Proximal 16p11.2 microdeletion syndrome1 test
Ring chromosome8 tests
Ring chromosome 18 tests
Ring chromosome 108 tests
Ring chromosome 118 tests
Ring chromosome 128 tests
Ring chromosome 138 tests
Ring chromosome 148 tests
Ring chromosome 158 tests
Ring chromosome 168 tests
Ring chromosome 178 tests
Ring chromosome 188 tests
Ring chromosome 198 tests
Ring chromosome 28 tests
Ring chromosome 20 syndrome8 tests
Ring chromosome 218 tests
Ring chromosome 228 tests
Ring chromosome 38 tests
Ring chromosome 4 syndrome8 tests
Ring chromosome 58 tests
Ring chromosome 68 tests
Ring chromosome 78 tests
Ring chromosome 98 tests
Ring chromosome Y8 tests
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion1 test
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome1 test
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion1 test
Silver-Russell syndrome due to 11p15 microduplication1 test
Silver-Russell syndrome due to 7p11.2p13 microduplication1 test
Soft tissue sarcoma1 test
Solid tumor1 test
Spinal muscular atrophy1 test
Tetraploidy syndrome8 tests
Total autosomal monosomy9 tests
Total autosomal trisomy9 tests
Triploidy8 tests
Trisomy9 tests
Trisomy 10p9 tests
Trisomy 11 mosaicism8 tests
Trisomy 12p9 tests
Trisomy 17p9 tests
Trisomy 188 tests
Trisomy 18p9 tests
Trisomy 1q9 tests
Trisomy 20p9 tests
Trisomy 229 tests
Trisomy 4p9 tests
Trisomy 5p9 tests
Trisomy 69 tests
Trisomy 88 tests
Trisomy 8p9 tests
Trisomy 8q9 tests
Trisomy 99 tests
Trisomy X syndrome9 tests
Velocardiofacial syndrome1 test
Wilms tumor 11 test
Wilms tumor 21 test
Wilms tumor 31 test
Wilms tumor 41 test
Wilms tumor 51 test
X chromosome deletion/duplication9 tests
X chromosome, duplication Xq13 1 q21 19 tests
X chromosome, monosomy Xq289 tests
X chromosome, trisomy Xp39 tests
X chromosome, trisomy Xpter Xq139 tests
X chromosome, trisomy Xq251 test
X small rings8 tests
X-linked acrogigantism due to Xq26 microduplication1 test
X-linked intellectual disability-retinitis pigmentosa syndrome1 test
Xp22.13p22.2 duplication syndrome1 test
Xp22.3 microdeletion syndrome1 test
Xq12-q13.3 duplication syndrome1 test
Xq25 microduplication syndrome1 test
Xq27.3q28 duplication syndrome1 test
Y chromosome deletions9 tests