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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 921May 21, 2020
Developmental and epileptic encephalopathy 931May 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
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 syndrome8 tests
11q partial monosomy syndrome8 tests
13q partial monosomy syndrome8 tests
18q partial monosomy syndrome8 tests
22q partial monosomy8 tests
22q11.2 deletion syndrome1 test
3p- syndrome8 tests
3q partial trisomy syndrome8 tests
4p partial monosomy syndrome8 tests
5p partial monosomy syndrome8 tests
6q partial trisomy syndrome8 tests
8p inverted duplication/deletion syndrome8 tests
9p partial trisomy syndrome8 tests
Alveolar rhabdomyosarcoma1 test
Aneuploidy, chromosomal rearrangements, chromosomal deletion, chromosomal duplication9 tests
Angelman syndrome1 test
Anomaly of sex chromosome9 tests
Astrocytoma1 test
Atypical Norrie disease due to monosomy Xp11.38 tests
Autism spectrum disorder2 tests
Autosomal chromosomal disorder10 tests
Autosomal monosomy8 tests
Autosomal trisomy8 tests
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion8 tests
Brain glioma1 test
Cerebellar ataxia1 test
Chromosome 1, deletion q21 q258 tests
Chromosome 1, monosomy 1p22 p138 tests
Chromosome 1, monosomy 1p31 p228 tests
Chromosome 1, monosomy 1p328 tests
Chromosome 1, monosomy 1p34 p328 tests
Chromosome 1, monosomy 1q25 q328 tests
Chromosome 1, monosomy 1q32 q428 tests
Chromosome 1, trisomy 1q32 qter8 tests
Chromosome 1, trisomy 1q42-qter8 tests
Chromosome 10, trisomy 10pter p138 tests
Chromosome 10q duplication syndrome8 tests
Chromosome 11, deletion 11p8 tests
Chromosome 11, partial trisomy 11q8 tests
Chromosome 11;14 translocation8 tests
Chromosome 11q trisomy8 tests
Chromosome 12p deletion8 tests
Chromosome 13, partial monosomy 13q8 tests
Chromosome 13q trisomy8 tests
Chromosome 14 deletion8 tests
Chromosome 14 trisomy8 tests
Chromosome 14, deletion 14q, partial duplication 14p8 tests
Chromosome 14;16 translocation8 tests
Chromosome 15, distal trisomy 15q8 tests
Chromosome 15q26-qter deletion syndrome8 tests
Chromosome 16 trisomy8 tests
Chromosome 17p deletion8 tests
Chromosome 18 mosaic monosomy8 tests
Chromosome 18 pericentric inversion8 tests
Chromosome 19 ring syndrome8 tests
Chromosome 1p36 deletion syndrome8 tests
Chromosome 1q deletion8 tests
Chromosome 2, monosomy 2p228 tests
Chromosome 2, monosomy 2pter p248 tests
Chromosome 21, monosomy 21q228 tests
Chromosome 22, trisomy q11 q138 tests
Chromosome 3, monosomy 3p14 p118 tests
Chromosome 3, monosomy 3q138 tests
Chromosome 3, monosomy 3q21 238 tests
Chromosome 3, monosomy 3q278 tests
Chromosome 3, trisomy 3p8 tests
Chromosome 3, trisomy 3q13 2 q258 tests
Chromosome 4 short arm deletion8 tests
Chromosome 4, Trisomy 4p8 tests
Chromosome 4, monosomy 4p14 p168 tests
Chromosome 4, monosomy 4q328 tests
Chromosome 4, monosomy distal 4q8 tests
Chromosome 4, partial trisomy distal 4q8 tests
Chromosome 4, trisomy 4q25 qter8 tests
Chromosome 5, trisomy 5p8 tests
Chromosome 5, trisomy 5pter p13 38 tests
Chromosome 6, deletion 6q13 q158 tests
Chromosome 6, monosomy 6q18 tests
Chromosome 6, monosomy 6q28 tests
Chromosome 6pter-p24 deletion syndrome8 tests
Chromosome 6q11-q14 deletion syndrome8 tests
Chromosome 6q24-q25 deletion syndrome8 tests
Chromosome 7, monosomy8 tests
Chromosome 7, monosomy 7q28 tests
Chromosome 7, monosomy 7q218 tests
Chromosome 7, monosomy 7q38 tests
Chromosome 7, partial monosomy 7p8 tests
Chromosome 8 deletion8 tests
Chromosome 8, monosomy 8p8 tests
Chromosome 8, monosomy 8p28 tests
Chromosome 8, partial trisomy8 tests
Chromosome 8-derived supernumerary ring/marker8 tests
Chromosome 8Q12.1-q21.2 deletion syndrome8 tests
Chromosome 9 translocation8 tests
Chromosome 9, trisomy 9p8 tests
Chromosome 9, trisomy 9q8 tests
Chromosome 9p deletion syndrome8 tests
Chromosomes 1 and 2, monosomy 2q duplication 1p8 tests
Classic medulloblastoma1 test
Complete trisomy 13 syndrome8 tests
Complete trisomy 20 syndrome8 tests
Congenital chromosomal disease10 tests
Cystic fibrosis1 test
Deletion 6q16 q218 tests
Deletion of long arm of chromosome 138 tests
Deletion of long arm of chromosome 188 tests
Deletion of short arm of chromosome 188 tests
Developmental delay1 test
DiGeorge syndrome1 test
Distal monosomy 12p8 tests
Distal monosomy 12q8 tests
Distal monosomy 14q8 tests
Distal monosomy 17q8 tests
Distal monosomy 19p13.38 tests
Distal monosomy 1q8 tests
Distal monosomy 20q8 tests
Distal monosomy 4q8 tests
Distal monosomy 7p8 tests
Distal monosomy 7q368 tests
Distal monosomy 9p syndrome8 tests
Distal trisomy 10q8 tests
Distal trisomy 11q8 tests
Distal trisomy 13q8 tests
Distal trisomy 14q8 tests
Distal trisomy 15q8 tests
Distal trisomy 16q8 tests
Distal trisomy 17q8 tests
Distal trisomy 18q8 tests
Distal trisomy 19q8 tests
Distal trisomy 1p368 tests
Distal trisomy 20q8 tests
Distal trisomy 22q8 tests
Distal trisomy 2p8 tests
Distal trisomy 2q8 tests
Distal trisomy 3p8 tests
Distal trisomy 4q8 tests
Distal trisomy 5q8 tests
Distal trisomy 6p8 tests
Distal trisomy 6q8 tests
Distal trisomy 7p8 tests
Distal trisomy 8q8 tests
Distal trisomy 9q8 tests
Down syndrome8 tests
Extraskeletal Ewing sarcoma1 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
Hematologic neoplasm1 test
Hereditary disease1 test
Hurler syndrome1 test
Infantile Krabbe disease2 tests
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies1 test
Known OR suspected fetal abnormality affecting management of mother1 test
Maternal care for suspected chromosomal abnormality in fetus1 test
Medulloblastoma2 tests
Monosomy9 tests
Monosomy 13q348 tests
Monosomy 218 tests
Monosomy 228 tests
Monosomy 8q12 218 tests
Monosomy 8q21 q228 tests
Monosomy X8 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
Mucopolysaccharidosis type 11 test
Mucopolysaccharidosis, MPS-I-H/S1 test
Mucopolysaccharidosis, MPS-I-S1 test
Multiple congenital anomalies1 test
Myelodysplastic syndrome associated with isolated del(5q)8 tests
Nephroblastoma1 test
Neuroblastoma4 tests
Non-distal monosomy 10q8 tests
Non-distal monosomy 12q8 tests
Non-distal monosomy 20q8 tests
Non-distal trisomy 10q8 tests
Non-distal trisomy 13q8 tests
Non-distal trisomy 9q8 tests
Partial autosomal deletion8 tests
Partial autosomal duplication/triplication8 tests
Partial chromosome Y deletion8 tests
Partial deletion of Y8 tests
Partial deletion of chromosome 18 tests
Partial deletion of chromosome 108 tests
Partial deletion of chromosome 118 tests
Partial deletion of chromosome 128 tests
Partial deletion of chromosome 168 tests
Partial deletion of chromosome 178 tests
Partial deletion of chromosome 188 tests
Partial deletion of chromosome 198 tests
Partial deletion of chromosome 28 tests
Partial deletion of chromosome 208 tests
Partial deletion of chromosome 38 tests
Partial deletion of chromosome 48 tests
Partial deletion of chromosome 58 tests
Partial deletion of chromosome 68 tests
Partial deletion of chromosome 78 tests
Partial deletion of chromosome 88 tests
Partial deletion of chromosome 98 tests
Partial deletion of chromosome X8 tests
Partial deletion of the long arm of chromosome 118 tests
Partial deletion of the long arm of chromosome 128 tests
Partial deletion of the long arm of chromosome 148 tests
Partial deletion of the long arm of chromosome 158 tests
Partial deletion of the long arm of chromosome 168 tests
Partial deletion of the long arm of chromosome 178 tests
Partial deletion of the long arm of chromosome 198 tests
Partial deletion of the long arm of chromosome 28 tests
Partial deletion of the long arm of chromosome 208 tests
Partial deletion of the long arm of chromosome 218 tests
Partial deletion of the long arm of chromosome 38 tests
Partial deletion of the long arm of chromosome 48 tests
Partial deletion of the long arm of chromosome 58 tests
Partial deletion of the long arm of chromosome 68 tests
Partial deletion of the long arm of chromosome 78 tests
Partial deletion of the long arm of chromosome 88 tests
Partial deletion of the long arm of chromosome X8 tests
Partial deletion of the short arm of chromosome 18 tests
Partial deletion of the short arm of chromosome 108 tests
Partial deletion of the short arm of chromosome 118 tests
Partial deletion of the short arm of chromosome 168 tests
Partial deletion of the short arm of chromosome 198 tests
Partial deletion of the short arm of chromosome 28 tests
Partial deletion of the short arm of chromosome 38 tests
Partial deletion of the short arm of chromosome 58 tests
Partial deletion of the short arm of chromosome 68 tests
Partial deletion of the short arm of chromosome 78 tests
Partial deletion of the short arm of chromosome 88 tests
Partial deletion of the short arm of chromosome 98 tests
Partial duplication of chromosome 18 tests
Partial duplication of chromosome 108 tests
Partial duplication of chromosome 118 tests
Partial duplication of chromosome 168 tests
Partial duplication of chromosome 178 tests
Partial duplication of chromosome 198 tests
Partial duplication of chromosome 28 tests
Partial duplication of chromosome 38 tests
Partial duplication of chromosome 48 tests
Partial duplication of chromosome 68 tests
Partial duplication of chromosome 78 tests
Partial duplication of chromosome 88 tests
Partial duplication of chromosome X8 tests
Partial duplication of the long arm of chromosome 18 tests
Partial duplication of the long arm of chromosome 128 tests
Partial duplication of the long arm of chromosome 148 tests
Partial duplication of the long arm of chromosome 158 tests
Partial duplication of the long arm of chromosome 178 tests
Partial duplication of the long arm of chromosome 198 tests
Partial duplication of the long arm of chromosome 28 tests
Partial duplication of the long arm of chromosome 228 tests
Partial duplication of the long arm of chromosome 38 tests
Partial duplication of the long arm of chromosome 48 tests
Partial duplication of the long arm of chromosome 68 tests
Partial duplication of the long arm of chromosome 78 tests
Partial duplication of the long arm of chromosome 88 tests
Partial duplication of the long arm of chromosome X8 tests
Partial duplication of the short arm of chromosome 18 tests
Partial duplication of the short arm of chromosome 108 tests
Partial duplication of the short arm of chromosome 118 tests
Partial duplication of the short arm of chromosome 168 tests
Partial duplication of the short arm of chromosome 178 tests
Partial duplication of the short arm of chromosome 198 tests
Partial duplication of the short arm of chromosome 28 tests
Partial duplication of the short arm of chromosome 38 tests
Partial duplication of the short arm of chromosome 48 tests
Partial duplication of the short arm of chromosome 68 tests
Partial duplication of the short arm of chromosome 78 tests
Partial duplication of the short arm of chromosome 88 tests
Partial duplication of the short arm of chromosome X8 tests
Partial monosomy of the long arm of chromosome 108 tests
Partial monosomy of the long arm of chromosome 98 tests
Partial monosomy of the short arm of chromosome 208 tests
Partial monosomy of the short arm of chromosome X8 tests
Partial trisomy of chromosome 208 tests
Partial trisomy of the long arm of chromosome 168 tests
Partial trisomy of the long arm of chromosome 188 tests
Partial trisomy of the long arm of chromosome 208 tests
Partial trisomy of the long arm of chromosome 58 tests
Partial trisomy of the long arm of chromosome 98 tests
Partial trisomy/tetrasomy of chromosome 188 tests
Partial trisomy/tetrasomy of chromosome 58 tests
Partial trisomy/tetrasomy of chromosome 98 tests
Partial trisomy/tetrasomy of the short arm of chromosome 128 tests
Partial trisomy/tetrasomy of the short arm of chromosome 188 tests
Partial trisomy/tetrasomy of the short arm of chromosome 58 tests
Pineoblastoma1 test
Pleomorphic xanthoastrocytoma1 test
Prader-Willi syndrome1 test
Prader-Willi syndrome due to translocation8 tests
Premature ovarian failure1 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
Soft tissue sarcoma1 test
Solid tumor1 test
Spinal muscular atrophy1 test
Tetraploidy syndrome8 tests
Total autosomal monosomy8 tests
Total autosomal trisomy8 tests
Triploidy8 tests
Trisomy9 tests
Trisomy 10p8 tests
Trisomy 11 mosaicism8 tests
Trisomy 12p8 tests
Trisomy 17p8 tests
Trisomy 188 tests
Trisomy 18p8 tests
Trisomy 1q8 tests
Trisomy 20p8 tests
Trisomy 228 tests
Trisomy 4p8 tests
Trisomy 5p8 tests
Trisomy 68 tests
Trisomy 88 tests
Trisomy 8p8 tests
Trisomy 8q8 tests
Trisomy 98 tests
Trisomy X syndrome8 tests
Wilms tumor 11 test
Wilms tumor 21 test
Wilms tumor 31 test
Wilms tumor 41 test
Wilms tumor 51 test
X chromosome deletion/duplication8 tests
X chromosome, duplication Xq13 1 q21 18 tests
X chromosome, monosomy Xq288 tests
X chromosome, trisomy Xp38 tests
X chromosome, trisomy Xpter Xq138 tests
X small rings8 tests
Y chromosome deletions8 tests