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
Nationwide Children's Hospital
700 Children's Drive
Columbus
Ohio
United States - 43205
https://www.nationwidechildrens.org/specialties/laboratory-services
Organization ID: 196472
Personnel
- Melanie Babcock, Lab Director
Phone: +1 (614) 355-4595
Email: Melanie.Babcock@nationwidechildrens.org - Donald Corsmeier, Informatics staff
Phone: +1 (614) 722-4187
Email: Don.Corsmeier@nationwidechildrens.org - Catherine Cottrell, Lab Director
Phone: +1 (614) 722-2851
Email: Catherine.Cottrell@nationwidechildrens.org - Douglas Depoorter, Variant scientist/curator
Phone: +1 (614) 355-6852
Email: Douglas.Depoorter@nationwidechildrens.org - Ying-Chen (Claire) Hou, Lab Director
Phone: +1 (614) 355-5907
Email: Claire.Hou@nationwidechildrens.org - Jessica Howard, Variant scientist/curator
Phone: +1 (614) 355-6884
Email: Jessica.Howard@nationwidechildrens.org - Jesse Hunter, Lab Director
Phone: +1 (614) 355-3081
Email: Jesse.Hunter@nationwidechildrens.org - Vijayakumar Jayaraman, Variant scientist/curator
Phone: +1 (614) 355-6885
Email: Vijayakumar.Jayaraman@nationwidechildrens.org - Prasad Kopparapu, Variant scientist/curator
Phone: +1 (614) 355-6931
Email: Prasad.Kopparapu@nationwidechildrens.org - Marco Leung, Lab Director
Phone: +1 (614) 355-5839
Email: Marco.Leung@nationwidechildrens.org - Mariam Mathew, Lab Director
Phone: +1 (614) 355-3675
Email: Mariam.Mathew@nationwidechildrens.org - Hui Mei, Lab Director
Phone: +1 (614) 722-0786
Email: Hui.Mei@nationwidechildrens.org - Danielle Mouhlas, Genetic Counselor
Phone: +1 (614) 722-5229
Email: Danielle.Mouhlas@nationwidechildrens.org - Shalini Reshmi, Lab Director
Phone: +1 (614) 722-5779
Email: Shalini.Reshmi@nationwidechildrens.org - Kathleen Schieffer, Lab Director
Phone: +1 (614) 355-2894
Email: Kathleen.Schieffer@nationwidechildrens.org - Akkari Yassmine, Lab Director
Phone: +1 (614) 722-2859
Email: Yassmine.Akkari@nationwidechildrens.org
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 271
Gene
Gene | Submissions | Last Updated |
---|---|---|
AARS1 | 1 | Dec 14, 2018 |
ABCC9 | 2 | May 21, 2020 |
ACP5 | 1 | Dec 14, 2018 |
ACTB | 1 | May 21, 2020 |
ADAT3 | 1 | Dec 14, 2018 |
AHDC1 | 1 | Dec 14, 2018 |
ALDH18A1 | 1 | Dec 14, 2018 |
ALK | 1 | Mar 4, 2021 |
AMPD2 | 1 | May 21, 2020 |
ANKRD11 | 4 | May 21, 2020 |
ANO5 | 1 | Dec 14, 2018 |
AP4M1 | 2 | May 21, 2020 |
AP4S1 | 1 | May 21, 2020 |
APC | 1 | Dec 14, 2018 |
APTX | 1 | Dec 14, 2018 |
ARID1A | 2 | Feb 13, 2020 |
ARID1B | 1 | May 21, 2020 |
ARID2 | 1 | Feb 13, 2020 |
ARX | 1 | Feb 13, 2020 |
ASIC4-AS1 | 1 | Dec 14, 2018 |
ASMT | 1 | Dec 14, 2018 |
ATN1 | 2 | Dec 14, 2018 |
ATP6V1A | 1 | May 21, 2020 |
ATXN1 | 1 | Dec 14, 2018 |
ATXN3 | 1 | Dec 14, 2018 |
ATXN7 | 2 | Dec 14, 2018 |
AUTS2 | 1 | Dec 14, 2018 |
B3GLCT | 1 | Dec 14, 2018 |
BCAP31 | 1 | Dec 14, 2018 |
BCOR | 1 | Dec 14, 2018 |
BRAF | 2 | Dec 14, 2018 |
BRCA1 | 2 | Dec 14, 2018 |
BRCA2 | 2 | Dec 14, 2018 |
C2CD3 | 2 | Dec 14, 2018 |
CACNA1B | 1 | Dec 14, 2018 |
CACNA1C | 1 | May 21, 2020 |
CACNA1S | 1 | Dec 14, 2018 |
CAMTA1 | 1 | May 21, 2020 |
CAV3 | 1 | May 21, 2020 |
CBL | 1 | Jun 15, 2021 |
CCDST | 3 | May 21, 2020 |
CCND2 | 1 | May 21, 2020 |
CDKL5 | 1 | Feb 13, 2020 |
CEP55 | 2 | Dec 14, 2018 |
CFHR5 | 1 | Dec 14, 2018 |
CFI | 1 | Dec 14, 2018 |
CFTR | 1 | Dec 14, 2018 |
CHD2 | 1 | May 21, 2020 |
CHD7 | 6 | May 21, 2020 |
CHRNB2 | 1 | Dec 14, 2018 |
COL11A1 | 1 | May 21, 2020 |
COL3A1 | 1 | May 21, 2020 |
COL5A1 | 1 | Dec 14, 2018 |
COL6A3 | 2 | Dec 14, 2018 |
CREBBP | 3 | May 21, 2020 |
CSF3R | 1 | Dec 14, 2018 |
CSNK2A1 | 2 | May 21, 2020 |
D2HGDH | 1 | Dec 14, 2018 |
DCHS1 | 1 | Dec 14, 2018 |
DDX3X | 2 | May 21, 2020 |
DHCR7 | 1 | Dec 14, 2018 |
DMXL2 | 1 | Dec 14, 2018 |
DNAI2 | 1 | Dec 14, 2018 |
DUOX2 | 1 | Dec 14, 2018 |
DVL1 | 1 | Dec 14, 2018 |
DYRK1A | 1 | May 21, 2020 |
EFTUD2 | 1 | May 21, 2020 |
EHMT1 | 3 | May 21, 2020 |
EPG5 | 1 | Dec 14, 2018 |
FBN1 | 1 | Dec 14, 2018 |
FGFR1 | 1 | Jan 29, 2022 |
FGFR3 | 1 | Dec 14, 2018 |
FLG | 3 | May 21, 2020 |
FOXG1 | 1 | May 21, 2020 |
FOXP1 | 2 | May 21, 2020 |
GABRB2 | 1 | May 21, 2020 |
GABRB3 | 1 | May 21, 2020 |
GABRG2 | 1 | May 21, 2020 |
GLI2 | 1 | Dec 14, 2018 |
GLIS3 | 1 | Dec 14, 2018 |
GMPPA | 1 | Dec 14, 2018 |
GRIN2A | 1 | Dec 14, 2018 |
HBB | 2 | May 21, 2020 |
HDAC8 | 1 | Dec 14, 2018 |
HNRNPK | 1 | May 21, 2020 |
HRAS | 1 | May 21, 2020 |
HTT | 1 | Dec 14, 2018 |
HYLS1 | 1 | May 21, 2020 |
IDUA | 1 | May 21, 2020 |
IFT140 | 1 | May 21, 2020 |
IGFALS | 1 | Dec 14, 2018 |
IL10RA | 1 | Dec 14, 2018 |
IQSEC2 | 5 | May 21, 2020 |
ITGB3 | 1 | Dec 14, 2018 |
JAK2 | 1 | Mar 6, 2020 |
KANSL1 | 1 | May 21, 2020 |
KAT6B | 1 | Dec 14, 2018 |
KATNIP | 1 | Dec 14, 2018 |
KCNQ1 | 2 | Dec 14, 2018 |
KCNT1 | 1 | Dec 14, 2018 |
KDM5C | 2 | May 21, 2020 |
KERA | 1 | May 21, 2020 |
KMT2D | 1 | May 21, 2020 |
KRT85 | 1 | Dec 14, 2018 |
LAMA2 | 1 | Dec 14, 2018 |
LDLR | 1 | Dec 14, 2018 |
LOC102724058 | 1 | May 21, 2020 |
LOC105371046 | 1 | May 21, 2020 |
LOC106099062 | 1 | May 21, 2020 |
LOC107133510 | 2 | May 21, 2020 |
LOC108663996 | 2 | Dec 14, 2018 |
LOC109461484 | 2 | Dec 14, 2018 |
LOC110006319 | 1 | May 21, 2020 |
LOC111674477 | 1 | Dec 14, 2018 |
LOC126805603 | 1 | May 21, 2020 |
LOC126806573 | 1 | Dec 14, 2018 |
LOC126862571 | 2 | Dec 14, 2018 |
LOC129929027 | 1 | Dec 14, 2018 |
LOC129937585 | 1 | May 21, 2020 |
LONP1 | 1 | Dec 14, 2018 |
LRRC56 | 1 | May 21, 2020 |
MAK | 1 | Dec 14, 2018 |
MEA1 | 1 | May 21, 2020 |
MECP2 | 1 | May 21, 2020 |
MED12 | 2 | May 21, 2020 |
MED13L | 1 | May 21, 2020 |
MED25 | 2 | May 21, 2020 |
MET | 1 | Sep 25, 2020 |
MYH7 | 2 | Dec 14, 2018 |
MYT1L | 2 | May 21, 2020 |
NAA10 | 1 | May 21, 2020 |
NADSYN1 | 1 | Dec 14, 2018 |
NBEA | 1 | May 21, 2020 |
NEB | 1 | Dec 14, 2018 |
NEDD4L | 1 | May 21, 2020 |
NLGN4X | 1 | Dec 14, 2018 |
NLRP12 | 1 | Dec 14, 2018 |
NOTCH1 | 1 | May 21, 2020 |
NPHP3-ACAD11 | 2 | May 21, 2020 |
NSD2 | 6 | May 21, 2020 |
NUBPL | 1 | May 21, 2020 |
OPA1 | 2 | May 21, 2020 |
OXTR | 1 | May 21, 2020 |
PARN | 1 | May 21, 2020 |
PIGA | 2 | May 21, 2020 |
PIK3R1 | 9 | Feb 3, 2021 |
PIK3R2 | 1 | Feb 13, 2020 |
PKP2 | 3 | Dec 14, 2018 |
POLD1 | 1 | Dec 14, 2018 |
POLR3B | 1 | May 21, 2020 |
PPP2R1A | 1 | Jun 15, 2021 |
PPP2R5D | 1 | May 21, 2020 |
PRF1 | 1 | Dec 14, 2018 |
PRKAG2 | 1 | Dec 14, 2018 |
PRODH | 1 | Dec 14, 2018 |
PRRC2B | 1 | Mar 4, 2021 |
PTPN11 | 2 | May 21, 2020 |
PUF60 | 2 | May 21, 2020 |
PUS3 | 1 | May 21, 2020 |
PYCR1 | 1 | May 21, 2020 |
RAI1 | 2 | May 21, 2020 |
RBM28 | 1 | Dec 14, 2018 |
RBPMS | 1 | Sep 25, 2020 |
RNASEH2B | 1 | Jan 4, 2023 |
RPS24 | 1 | Dec 14, 2018 |
RPS6KA3 | 2 | May 21, 2020 |
RTEL1 | 1 | Dec 14, 2018 |
RTEL1-TNFRSF6B | 1 | Dec 14, 2018 |
RYR1 | 3 | May 21, 2020 |
RYR2 | 1 | Dec 14, 2018 |
SALL1 | 1 | May 21, 2020 |
SAMHD1 | 2 | May 21, 2020 |
SATB2 | 2 | May 21, 2020 |
SCAMP4 | 1 | Dec 14, 2018 |
SCN1A | 1 | May 21, 2020 |
SCN1B | 1 | Dec 14, 2018 |
SCN8A | 1 | May 21, 2020 |
SEC23B | 1 | Dec 14, 2018 |
SERPINC1 | 1 | May 21, 2020 |
SETBP1 | 1 | Dec 14, 2018 |
SETD5 | 1 | May 21, 2020 |
SHANK3 | 1 | May 21, 2020 |
SLC17A5 | 2 | May 21, 2020 |
SLC22A5 | 2 | May 21, 2020 |
SLC2A1 | 2 | May 21, 2020 |
SLC6A3 | 2 | May 21, 2020 |
SLC6A8 | 1 | Dec 14, 2018 |
SLX4 | 1 | Dec 14, 2018 |
SMAD4 | 1 | May 21, 2020 |
SMARCA2 | 1 | Dec 14, 2018 |
SMC1A | 1 | May 21, 2020 |
SMPD1 | 1 | Dec 14, 2018 |
SON | 1 | May 21, 2020 |
SRCAP | 3 | Dec 14, 2018 |
SRD5A2 | 2 | May 21, 2020 |
STXBP1 | 2 | May 21, 2020 |
SYNE1 | 1 | Dec 14, 2018 |
SYNGAP1 | 1 | May 21, 2020 |
SYNGAP1-AS1 | 1 | May 21, 2020 |
TAOK1 | 1 | Dec 21, 2021 |
TBCD | 2 | May 21, 2020 |
TBL1XR1 | 1 | May 21, 2020 |
TBP | 2 | Dec 14, 2018 |
TBX1 | 1 | May 21, 2020 |
TCF4 | 1 | May 21, 2020 |
TCN2 | 1 | Dec 14, 2018 |
TDP1 | 1 | Dec 14, 2018 |
TECPR2 | 1 | Dec 14, 2018 |
TGFBR1 | 1 | Dec 14, 2018 |
TGM6 | 1 | Dec 14, 2018 |
TMIE | 1 | Dec 14, 2018 |
TRIP12 | 1 | Feb 13, 2020 |
TRNT1 | 2 | May 21, 2020 |
TSC2 | 1 | Dec 14, 2018 |
TUBB4A | 1 | May 21, 2020 |
UBA5 | 2 | May 21, 2020 |
USP9X | 1 | Dec 14, 2018 |
ZBTB20 | 1 | Mar 6, 2020 |
ZEB2 | 2 | May 21, 2020 |
ZNF469 | 1 | Dec 14, 2018 |
ZSWIM6 | 1 | Dec 14, 2018 |
Condition
Testing in GTR
Disease name | Number of tests |
---|---|
10q partial trisomy syndrome | 9 tests |
10q22.3q23.3 microduplication syndrome | 1 test |
11p15.4 microduplication syndrome | 1 test |
11q partial monosomy syndrome | 9 tests |
11q22.2q22.3 microdeletion syndrome | 1 test |
12p12.1 microdeletion syndrome | 1 test |
12q14 microdeletion syndrome | 1 test |
12q15q21.1 microdeletion syndrome | 1 test |
13q partial monosomy syndrome | 9 tests |
13q12.3 microdeletion syndrome | 1 test |
14q11.2 microduplication syndrome | 1 test |
14q12 microdeletion syndrome | 1 test |
14q24.1q24.3 microdeletion syndrome | 1 test |
14q32 duplication syndrome | 1 test |
15q11q13 microduplication syndrome | 1 test |
15q14 microdeletion syndrome | 1 test |
16p11.2p12.2 microduplication syndrome | 1 test |
16p13.11 microdeletion syndrome | 1 test |
16p13.11 microduplication syndrome | 1 test |
16q24.1 microdeletion syndrome | 1 test |
16q24.3 microdeletion syndrome | 1 test |
17q11.2 microduplication syndrome | 1 test |
18q partial monosomy syndrome | 9 tests |
19p13.12 microdeletion syndrome | 1 test |
19p13.3 microduplication syndrome | 1 test |
1p21.3 microdeletion syndrome | 1 test |
1p35.2 microdeletion syndrome | 1 test |
1q44 microdeletion syndrome | 1 test |
20p12.3 microdeletion syndrome | 1 test |
20p13 microdeletion syndrome | 1 test |
20q11.2 microdeletion syndrome | 1 test |
20q11.2 microduplication syndrome | 1 test |
20q13.33 microdeletion syndrome | 1 test |
21q22.11q22.12 microdeletion syndrome | 1 test |
22q partial monosomy | 9 tests |
22q11.2 deletion syndrome | 2 tests |
2p13.2 microdeletion syndrome | 1 test |
2p21 microdeletion syndrome | 1 test |
2p21 microdeletion syndrome without cystinuria | 1 test |
2q23.1 microdeletion syndrome | 1 test |
2q23.1 microduplication syndrome | 1 test |
2q24 microdeletion syndrome | 1 test |
2q31.1 microdeletion syndrome | 1 test |
2q33.1 microdeletion syndrome | 1 test |
3p- syndrome | 9 tests |
3p25.3 microdeletion syndrome | 1 test |
3q partial trisomy syndrome | 9 tests |
3q26 microduplication syndrome | 1 test |
3q26q27 microdeletion syndrome | 1 test |
3q27.3 microdeletion syndrome | 1 test |
4p partial monosomy syndrome | 9 tests |
4p16.3 microduplication syndrome | 1 test |
4q25 proximal deletion syndrome | 1 test |
5p partial monosomy syndrome | 9 tests |
5q14.3 microdeletion syndrome | 1 test |
5q22 deletion syndrome | 1 test |
5q35 microduplication syndrome | 1 test |
6p22 microdeletion syndrome | 1 test |
6q partial trisomy syndrome | 9 tests |
6q terminal deletion syndrome | 1 test |
6q16 deletion syndrome | 1 test |
7p22.1 microduplication syndrome | 1 test |
7q11.23 microduplication syndrome | 1 test |
7q31 microdeletion syndrome | 1 test |
8p inverted duplication/deletion syndrome | 9 tests |
8p11.2 deletion syndrome | 1 test |
8p23.1 duplication syndrome | 1 test |
8p23.1 microdeletion syndrome | 1 test |
8q22.1 microdeletion syndrome | 1 test |
9p partial trisomy syndrome | 9 tests |
9p13 microdeletion syndrome | 1 test |
9q31.1q31.3 microdeletion syndrome | 1 test |
9q33.3q34.11 microdeletion syndrome | 1 test |
Alagille syndrome due to 20p12 microdeletion | 1 test |
Alveolar rhabdomyosarcoma | 1 test |
Aneuploidy, chromosomal rearrangements, chromosomal deletion, chromosomal duplication | 9 tests |
Angelman syndrome | 1 test |
Angelman syndrome due to maternal 15q11q13 deletion | 1 test |
Anomaly of sex chromosome | 10 tests |
Astrocytoma | 1 test |
Atypical Norrie disease due to monosomy Xp11.3 | 9 tests |
Autism spectrum disorder | 1 test |
Autosomal chromosomal disorder | 10 tests |
Autosomal monosomy | 9 tests |
Autosomal trisomy | 9 tests |
Beckwith-Wiedemann syndrome due to 11p15 microdeletion | 1 test |
Beckwith-Wiedemann syndrome due to 11p15 microduplication | 1 test |
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion | 8 tests |
Brain glioma | 1 test |
CBL-related disorder | 1 test |
CHROMOSOME 1qter DELETION SYNDROME | 1 test |
Cardiofaciocutaneous syndrome 1 | 1 test |
Cerebellar ataxia | 1 test |
Chromosome 1, deletion q21 q25 | 9 tests |
Chromosome 1, duplication 1p21 p32 | 1 test |
Chromosome 1, monosomy 1p22 p13 | 9 tests |
Chromosome 1, monosomy 1p31 p22 | 9 tests |
Chromosome 1, monosomy 1p32 | 9 tests |
Chromosome 1, monosomy 1p34 p32 | 9 tests |
Chromosome 1, monosomy 1q25 q32 | 9 tests |
Chromosome 1, monosomy 1q32 q42 | 9 tests |
Chromosome 1, trisomy 1q32 qter | 9 tests |
Chromosome 1, trisomy 1q42-qter | 9 tests |
Chromosome 10, trisomy 10pter p13 | 9 tests |
Chromosome 10q duplication syndrome | 9 tests |
Chromosome 10q23 deletion syndrome | 1 test |
Chromosome 11, deletion 11p | 9 tests |
Chromosome 11, partial trisomy 11q | 9 tests |
Chromosome 11;14 translocation | 8 tests |
Chromosome 11p13 deletion syndrome, distal | 1 test |
Chromosome 11q trisomy | 9 tests |
Chromosome 12p deletion | 9 tests |
Chromosome 13, partial monosomy 13q | 9 tests |
Chromosome 13p duplication | 1 test |
Chromosome 13q trisomy | 9 tests |
Chromosome 13q14 deletion syndrome | 1 test |
Chromosome 13q33-q34 deletion syndrome | 1 test |
Chromosome 14 deletion | 9 tests |
Chromosome 14 trisomy | 9 tests |
Chromosome 14, deletion 14q, partial duplication 14p | 9 tests |
Chromosome 14;16 translocation | 8 tests |
Chromosome 14q, proximal duplication | 1 test |
Chromosome 14q11-q22 deletion syndrome | 1 test |
Chromosome 15, distal trisomy 15q | 9 tests |
Chromosome 15q duplication mosaicism | 1 test |
Chromosome 15q11.2 deletion syndrome | 1 test |
Chromosome 15q11.2 duplication syndrome | 1 test |
Chromosome 15q13.3 microdeletion syndrome | 1 test |
Chromosome 15q24 deletion syndrome | 1 test |
Chromosome 15q25 deletion syndrome | 1 test |
Chromosome 15q26-qter deletion syndrome | 9 tests |
Chromosome 16 trisomy | 9 tests |
Chromosome 16p11.2 duplication syndrome | 1 test |
Chromosome 16p12.1 deletion syndrome, 520kb | 1 test |
Chromosome 16p12.2-p11.2 deletion syndrome | 1 test |
Chromosome 16p13.3 duplication syndrome | 1 test |
Chromosome 16q22 deletion syndrome | 1 test |
Chromosome 17, deletion 17q23 q24 | 1 test |
Chromosome 17, duplication | 1 test |
Chromosome 17P13.3, telomeric, duplication syndrome | 1 test |
Chromosome 17p deletion | 9 tests |
Chromosome 17p13.1 deletion syndrome | 1 test |
Chromosome 17p13.3 duplication syndrome | 1 test |
Chromosome 17q11.2 deletion syndrome, 1.4Mb | 1 test |
Chromosome 17q12 deletion syndrome | 1 test |
Chromosome 17q12 duplication syndrome | 1 test |
Chromosome 17q21.31 duplication syndrome | 1 test |
Chromosome 17q23.1-q23.2 deletion syndrome | 1 test |
Chromosome 18 mosaic monosomy | 8 tests |
Chromosome 18 pericentric inversion | 8 tests |
Chromosome 19 ring syndrome | 8 tests |
Chromosome 19p13.13 deletion syndrome | 1 test |
Chromosome 19q13.11 deletion syndrome, distal | 1 test |
Chromosome 19q13.11 deletion syndrome, proximal | 1 test |
Chromosome 1p35 deletion syndrome | 1 test |
Chromosome 1p36 deletion syndrome | 9 tests |
Chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant | 1 test |
Chromosome 1q deletion | 9 tests |
Chromosome 1q, duplication 1q12 q21 | 1 test |
Chromosome 1q21.1 deletion syndrome | 1 test |
Chromosome 1q21.1 duplication syndrome | 1 test |
Chromosome 1q41-q42 deletion syndrome | 1 test |
Chromosome 2, duplication(2)(p13)(p21) | 1 test |
Chromosome 2, monosomy 2p22 | 9 tests |
Chromosome 2, monosomy 2pter p24 | 9 tests |
Chromosome 2, trisomy 2pter p24 | 1 test |
Chromosome 2, trisomy 2q37 | 1 test |
Chromosome 21, monosomy 21q22 | 9 tests |
Chromosome 22, trisomy q11 q13 | 9 tests |
Chromosome 22q11.2 deletion syndrome, distal | 1 test |
Chromosome 22q11.2 microduplication syndrome | 1 test |
Chromosome 22q13 duplication syndrome | 1 test |
Chromosome 2p12-p11.2 deletion syndrome | 1 test |
Chromosome 2p16.1-p15 deletion syndrome | 1 test |
Chromosome 2q23.1 deletion syndrome | 1 test |
Chromosome 2q23.1 duplication syndrome | 1 test |
Chromosome 2q31.1 duplication syndrome | 1 test |
Chromosome 2q31.2 deletion syndrome | 1 test |
Chromosome 2q32-q33 deletion syndrome | 1 test |
Chromosome 2q37 deletion syndrome | 1 test |
Chromosome 3 duplication syndrome | 1 test |
Chromosome 3, monosomy 3p14 p11 | 9 tests |
Chromosome 3, monosomy 3q13 | 9 tests |
Chromosome 3, monosomy 3q21 23 | 9 tests |
Chromosome 3, monosomy 3q27 | 9 tests |
Chromosome 3, trisomy 3p | 9 tests |
Chromosome 3, trisomy 3p25 | 1 test |
Chromosome 3, trisomy 3q13 2 q25 | 9 tests |
Chromosome 3q13.31 deletion syndrome | 1 test |
Chromosome 3q29 microdeletion syndrome | 1 test |
Chromosome 3q29 microduplication syndrome | 1 test |
Chromosome 4 short arm deletion | 9 tests |
Chromosome 4, Trisomy 4p | 9 tests |
Chromosome 4, monosomy 4p14 p16 | 9 tests |
Chromosome 4, monosomy 4q32 | 9 tests |
Chromosome 4, monosomy distal 4q | 9 tests |
Chromosome 4, partial trisomy distal 4q | 9 tests |
Chromosome 4, trisomy 4q21 | 1 test |
Chromosome 4, trisomy 4q25 qter | 9 tests |
Chromosome 4q21 deletion syndrome | 1 test |
Chromosome 5, trisomy 5p | 9 tests |
Chromosome 5, trisomy 5pter p13 3 | 9 tests |
Chromosome 5Q14.3 deletion syndrome, distal | 1 test |
Chromosome 5p13 duplication syndrome | 1 test |
Chromosome 5q12 deletion syndrome | 1 test |
Chromosome 5q14.3 deletion syndrome | 1 test |
Chromosome 6, deletion 6q13 q15 | 9 tests |
Chromosome 6, monosomy 6p23 | 1 test |
Chromosome 6, monosomy 6q1 | 9 tests |
Chromosome 6, monosomy 6q2 | 9 tests |
Chromosome 6pter-p24 deletion syndrome | 9 tests |
Chromosome 6q11-q14 deletion syndrome | 9 tests |
Chromosome 6q24-q25 deletion syndrome | 9 tests |
Chromosome 7, monosomy | 9 tests |
Chromosome 7, monosomy 7q2 | 9 tests |
Chromosome 7, monosomy 7q21 | 9 tests |
Chromosome 7, monosomy 7q3 | 9 tests |
Chromosome 7, partial monosomy 7p | 9 tests |
Chromosome 7, trisomy 7p13 p12 2 | 1 test |
Chromosome 8 deletion | 9 tests |
Chromosome 8, monosomy 8p | 9 tests |
Chromosome 8, monosomy 8p2 | 9 tests |
Chromosome 8, partial trisomy | 9 tests |
Chromosome 8-derived supernumerary ring/marker | 8 tests |
Chromosome 8Q12.1-q21.2 deletion syndrome | 9 tests |
Chromosome 8q21.11 deletion syndrome | 1 test |
Chromosome 9 translocation | 8 tests |
Chromosome 9, deletion 9q21.33q22.32 | 1 test |
Chromosome 9, duplication 9q21 | 1 test |
Chromosome 9, trisomy 9p | 9 tests |
Chromosome 9, trisomy 9q | 9 tests |
Chromosome 9, trisomy 9q32 | 1 test |
Chromosome 9p deletion syndrome | 9 tests |
Chromosome 9q duplication | 1 test |
Chromosome Xp11.23-p11.22 duplication syndrome | 1 test |
Chromosome Xp21 deletion syndrome | 1 test |
Chromosome Xq28 duplication syndrome | 1 test |
Chromosomes 1 and 2, monosomy 2q duplication 1p | 9 tests |
Classic medulloblastoma | 1 test |
Complete trisomy 13 syndrome | 8 tests |
Complete trisomy 20 syndrome | 8 tests |
Complete trisomy 21 syndrome | 8 tests |
Congenital chromosomal disease | 10 tests |
Costello syndrome | 1 test |
Cystic fibrosis | 1 test |
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | 1 test |
DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion | 1 test |
Deletion 5q35 | 1 test |
Deletion 6q16 q21 | 9 tests |
Deletion of long arm of chromosome 13 | 9 tests |
Deletion of long arm of chromosome 18 | 9 tests |
Deletion of short arm of chromosome 18 | 9 tests |
DiGeorge syndrome | 2 tests |
Distal 10q deletion syndrome | 1 test |
Distal 16p11.2 microdeletion syndrome | 1 test |
Distal 17p13.1 microdeletion syndrome | 1 test |
Distal 17p13.3 microdeletion syndrome | 1 test |
Distal 22q11.2 microduplication syndrome | 1 test |
Distal 7q11.23 microdeletion syndrome | 1 test |
Distal 7q11.23 microduplication syndrome | 1 test |
Distal Xq28 microduplication syndrome | 1 test |
Distal monosomy 12p | 9 tests |
Distal monosomy 12q | 9 tests |
Distal monosomy 14q | 9 tests |
Distal monosomy 17q | 9 tests |
Distal monosomy 19p13.3 | 9 tests |
Distal monosomy 1q | 9 tests |
Distal monosomy 20q | 9 tests |
Distal monosomy 4q | 9 tests |
Distal monosomy 7p | 9 tests |
Distal monosomy 7q36 | 9 tests |
Distal monosomy 9p syndrome | 9 tests |
Distal trisomy 10q | 9 tests |
Distal trisomy 11q | 9 tests |
Distal trisomy 13q | 9 tests |
Distal trisomy 14q | 9 tests |
Distal trisomy 15q | 9 tests |
Distal trisomy 16q | 9 tests |
Distal trisomy 17q | 9 tests |
Distal trisomy 18q | 9 tests |
Distal trisomy 19q | 9 tests |
Distal trisomy 1p36 | 9 tests |
Distal trisomy 20q | 9 tests |
Distal trisomy 22q | 9 tests |
Distal trisomy 2p | 9 tests |
Distal trisomy 2q | 9 tests |
Distal trisomy 3p | 9 tests |
Distal trisomy 4q | 9 tests |
Distal trisomy 5q | 9 tests |
Distal trisomy 6p | 9 tests |
Distal trisomy 6q | 9 tests |
Distal trisomy 7p | 9 tests |
Distal trisomy 8q | 9 tests |
Distal trisomy 9q | 9 tests |
Duplication/inversion 15q11 | 1 test |
Extraskeletal Ewing sarcoma | 1 test |
Familial adenomatous polyposis due to 5q22.2 microdeletion | 1 test |
Familial clubfoot due to 17q23.1q23.2 microduplication | 1 test |
Familial clubfoot due to 5q31 microdeletion | 1 test |
Familial monosomy 7 syndrome | 8 tests |
Fragile X syndrome | 1 test |
Fragile X-associated tremor/ataxia syndrome | 1 test |
Galactosylceramide beta-galactosidase deficiency | 2 tests |
Glioblastoma | 1 test |
Glioma | 1 test |
Hao-Fountain syndrome | 1 test |
Hematologic neoplasm | 1 test |
Hereditary disease | 1 test |
Holoprosencephaly deletion 2p | 1 test |
Homozygous 11P15-p14 deletion syndrome | 1 test |
Homozygous 2p21 microdeletion syndrome | 1 test |
Hurler syndrome | 1 test |
Infantile Krabbe disease | 2 tests |
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | 1 test |
Kleefstra syndrome due to 9q34 microdeletion | 1 test |
Known OR suspected fetal abnormality affecting management of mother | 1 test |
Legius syndrome | 1 test |
Maternal 14q32.2 microdeletion syndrome | 1 test |
Maternal care for suspected chromosomal abnormality in fetus | 1 test |
Medulloblastoma | 2 tests |
Microdeletion / Duplication Syndromes, Absence of Heterozygosity, Aneuploidy | 1 test |
Monosomy | 9 tests |
Monosomy 13q34 | 9 tests |
Monosomy 21 | 9 tests |
Monosomy 22 | 9 tests |
Monosomy 8q12 21 | 9 tests |
Monosomy 8q21 q22 | 9 tests |
Monosomy 9q22.3 | 1 test |
Monosomy X | 9 tests |
Mosaic trisomy 1 | 8 tests |
Mosaic trisomy 10 | 8 tests |
Mosaic trisomy 12 | 8 tests |
Mosaic trisomy 14 | 8 tests |
Mosaic trisomy 15 | 8 tests |
Mosaic trisomy 17 | 8 tests |
Mosaic trisomy 2 | 8 tests |
Mosaic trisomy 20 | 8 tests |
Mosaic trisomy 22 | 8 tests |
Mosaic trisomy 3 | 8 tests |
Mosaic trisomy 4 | 8 tests |
Mosaic trisomy 5 | 8 tests |
Mosaic trisomy 7 | 8 tests |
Mosaic trisomy 8 | 8 tests |
Mosaic trisomy 9 | 8 tests |
Mosaic variegated aneuploidy syndrome | 8 tests |
Mowat-Wilson syndrome due to monosomy 2q22 | 1 test |
Mucopolysaccharidosis type 1 | 1 test |
Mucopolysaccharidosis, MPS-I-H/S | 1 test |
Mucopolysaccharidosis, MPS-I-S | 1 test |
Myelodysplastic syndrome associated with isolated del(5q) | 9 tests |
Nephroblastoma | 1 test |
Neuroblastoma | 4 tests |
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion | 1 test |
Neurofibromatosis-Noonan syndrome | 1 test |
Non-distal monosomy 10q | 9 tests |
Non-distal monosomy 12q | 9 tests |
Non-distal monosomy 20q | 9 tests |
Non-distal trisomy 10q | 9 tests |
Non-distal trisomy 13q | 9 tests |
Non-distal trisomy 9q | 9 tests |
Noonan syndrome | 1 test |
Noonan syndrome with multiple lentigines | 1 test |
Noonan syndrome-like disorder with loose anagen hair 1 | 1 test |
Okihiro syndrome due to 20q13 microdeletion | 1 test |
Partial autosomal deletion | 9 tests |
Partial autosomal duplication/triplication | 9 tests |
Partial chromosome Y deletion | 9 tests |
Partial deletion of Y | 9 tests |
Partial deletion of chromosome 1 | 9 tests |
Partial deletion of chromosome 10 | 9 tests |
Partial deletion of chromosome 11 | 9 tests |
Partial deletion of chromosome 12 | 9 tests |
Partial deletion of chromosome 16 | 9 tests |
Partial deletion of chromosome 17 | 9 tests |
Partial deletion of chromosome 18 | 9 tests |
Partial deletion of chromosome 19 | 9 tests |
Partial deletion of chromosome 2 | 9 tests |
Partial deletion of chromosome 20 | 9 tests |
Partial deletion of chromosome 3 | 9 tests |
Partial deletion of chromosome 4 | 9 tests |
Partial deletion of chromosome 5 | 9 tests |
Partial deletion of chromosome 6 | 9 tests |
Partial deletion of chromosome 7 | 9 tests |
Partial deletion of chromosome 8 | 9 tests |
Partial deletion of chromosome 9 | 9 tests |
Partial deletion of chromosome X | 9 tests |
Partial deletion of the long arm of chromosome 11 | 9 tests |
Partial deletion of the long arm of chromosome 12 | 9 tests |
Partial deletion of the long arm of chromosome 14 | 9 tests |
Partial deletion of the long arm of chromosome 15 | 9 tests |
Partial deletion of the long arm of chromosome 16 | 9 tests |
Partial deletion of the long arm of chromosome 17 | 9 tests |
Partial deletion of the long arm of chromosome 19 | 9 tests |
Partial deletion of the long arm of chromosome 2 | 9 tests |
Partial deletion of the long arm of chromosome 20 | 9 tests |
Partial deletion of the long arm of chromosome 21 | 9 tests |
Partial deletion of the long arm of chromosome 3 | 9 tests |
Partial deletion of the long arm of chromosome 4 | 9 tests |
Partial deletion of the long arm of chromosome 5 | 9 tests |
Partial deletion of the long arm of chromosome 6 | 9 tests |
Partial deletion of the long arm of chromosome 7 | 9 tests |
Partial deletion of the long arm of chromosome 8 | 9 tests |
Partial deletion of the long arm of chromosome X | 9 tests |
Partial deletion of the short arm of chromosome 1 | 9 tests |
Partial deletion of the short arm of chromosome 10 | 9 tests |
Partial deletion of the short arm of chromosome 11 | 9 tests |
Partial deletion of the short arm of chromosome 16 | 9 tests |
Partial deletion of the short arm of chromosome 19 | 9 tests |
Partial deletion of the short arm of chromosome 2 | 9 tests |
Partial deletion of the short arm of chromosome 3 | 9 tests |
Partial deletion of the short arm of chromosome 5 | 9 tests |
Partial deletion of the short arm of chromosome 6 | 9 tests |
Partial deletion of the short arm of chromosome 7 | 9 tests |
Partial deletion of the short arm of chromosome 8 | 9 tests |
Partial deletion of the short arm of chromosome 9 | 9 tests |
Partial duplication of chromosome 1 | 9 tests |
Partial duplication of chromosome 10 | 9 tests |
Partial duplication of chromosome 11 | 9 tests |
Partial duplication of chromosome 16 | 9 tests |
Partial duplication of chromosome 17 | 9 tests |
Partial duplication of chromosome 19 | 9 tests |
Partial duplication of chromosome 2 | 9 tests |
Partial duplication of chromosome 3 | 9 tests |
Partial duplication of chromosome 4 | 9 tests |
Partial duplication of chromosome 6 | 9 tests |
Partial duplication of chromosome 7 | 9 tests |
Partial duplication of chromosome 8 | 9 tests |
Partial duplication of chromosome X | 9 tests |
Partial duplication of the long arm of chromosome 1 | 9 tests |
Partial duplication of the long arm of chromosome 12 | 9 tests |
Partial duplication of the long arm of chromosome 14 | 9 tests |
Partial duplication of the long arm of chromosome 15 | 9 tests |
Partial duplication of the long arm of chromosome 17 | 9 tests |
Partial duplication of the long arm of chromosome 19 | 9 tests |
Partial duplication of the long arm of chromosome 2 | 9 tests |
Partial duplication of the long arm of chromosome 22 | 9 tests |
Partial duplication of the long arm of chromosome 3 | 9 tests |
Partial duplication of the long arm of chromosome 4 | 9 tests |
Partial duplication of the long arm of chromosome 6 | 9 tests |
Partial duplication of the long arm of chromosome 7 | 9 tests |
Partial duplication of the long arm of chromosome 8 | 9 tests |
Partial duplication of the long arm of chromosome X | 9 tests |
Partial duplication of the short arm of chromosome 1 | 9 tests |
Partial duplication of the short arm of chromosome 10 | 9 tests |
Partial duplication of the short arm of chromosome 11 | 9 tests |
Partial duplication of the short arm of chromosome 16 | 9 tests |
Partial duplication of the short arm of chromosome 17 | 9 tests |
Partial duplication of the short arm of chromosome 19 | 9 tests |
Partial duplication of the short arm of chromosome 2 | 9 tests |
Partial duplication of the short arm of chromosome 3 | 9 tests |
Partial duplication of the short arm of chromosome 4 | 9 tests |
Partial duplication of the short arm of chromosome 6 | 9 tests |
Partial duplication of the short arm of chromosome 7 | 9 tests |
Partial duplication of the short arm of chromosome 8 | 9 tests |
Partial duplication of the short arm of chromosome X | 9 tests |
Partial monosomy of the long arm of chromosome 10 | 9 tests |
Partial monosomy of the long arm of chromosome 9 | 9 tests |
Partial monosomy of the short arm of chromosome 20 | 9 tests |
Partial monosomy of the short arm of chromosome X | 9 tests |
Partial trisomy of chromosome 20 | 9 tests |
Partial trisomy of the long arm of chromosome 16 | 9 tests |
Partial trisomy of the long arm of chromosome 18 | 9 tests |
Partial trisomy of the long arm of chromosome 20 | 9 tests |
Partial trisomy of the long arm of chromosome 5 | 9 tests |
Partial trisomy of the long arm of chromosome 9 | 9 tests |
Partial trisomy/tetrasomy of chromosome 18 | 9 tests |
Partial trisomy/tetrasomy of chromosome 5 | 9 tests |
Partial trisomy/tetrasomy of chromosome 9 | 9 tests |
Partial trisomy/tetrasomy of the short arm of chromosome 12 | 9 tests |
Partial trisomy/tetrasomy of the short arm of chromosome 18 | 9 tests |
Partial trisomy/tetrasomy of the short arm of chromosome 5 | 9 tests |
Paternal 14q32.2 microdeletion syndrome | 1 test |
Paternal 20q13.2q13.3 microdeletion syndrome | 1 test |
Phelan-McDermid syndrome | 1 test |
Pineoblastoma | 1 test |
Pleomorphic xanthoastrocytoma | 1 test |
Prader-Willi syndrome | 1 test |
Prader-Willi syndrome due to paternal 15q11q13 deletion | 1 test |
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | 1 test |
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | 1 test |
Prader-Willi syndrome due to translocation | 8 tests |
Premature ovarian failure | 1 test |
Proximal 16p11.2 microdeletion syndrome | 1 test |
RASopathy | 1 test |
Ring chromosome | 8 tests |
Ring chromosome 1 | 8 tests |
Ring chromosome 10 | 8 tests |
Ring chromosome 11 | 8 tests |
Ring chromosome 12 | 8 tests |
Ring chromosome 13 | 8 tests |
Ring chromosome 14 | 8 tests |
Ring chromosome 15 | 8 tests |
Ring chromosome 16 | 8 tests |
Ring chromosome 17 | 8 tests |
Ring chromosome 18 | 8 tests |
Ring chromosome 19 | 8 tests |
Ring chromosome 2 | 8 tests |
Ring chromosome 20 syndrome | 8 tests |
Ring chromosome 21 | 8 tests |
Ring chromosome 22 | 8 tests |
Ring chromosome 3 | 8 tests |
Ring chromosome 4 syndrome | 8 tests |
Ring chromosome 5 | 8 tests |
Ring chromosome 6 | 8 tests |
Ring chromosome 7 | 8 tests |
Ring chromosome 9 | 8 tests |
Ring chromosome Y | 8 tests |
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | 1 test |
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | 1 test |
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion | 1 test |
Silver-Russell syndrome due to 11p15 microduplication | 1 test |
Silver-Russell syndrome due to 7p11.2p13 microduplication | 1 test |
Soft tissue sarcoma | 1 test |
Solid tumor | 1 test |
Spinal muscular atrophy | 1 test |
Tetraploidy syndrome | 8 tests |
Total autosomal monosomy | 9 tests |
Total autosomal trisomy | 9 tests |
Triploidy | 8 tests |
Trisomy | 9 tests |
Trisomy 10p | 9 tests |
Trisomy 11 mosaicism | 8 tests |
Trisomy 12p | 9 tests |
Trisomy 17p | 9 tests |
Trisomy 18 | 8 tests |
Trisomy 18p | 9 tests |
Trisomy 1q | 9 tests |
Trisomy 20p | 9 tests |
Trisomy 22 | 9 tests |
Trisomy 4p | 9 tests |
Trisomy 5p | 9 tests |
Trisomy 6 | 9 tests |
Trisomy 8 | 8 tests |
Trisomy 8p | 9 tests |
Trisomy 8q | 9 tests |
Trisomy 9 | 9 tests |
Trisomy X syndrome | 9 tests |
Velocardiofacial syndrome | 1 test |
Wilms tumor 1 | 1 test |
Wilms tumor 2 | 1 test |
Wilms tumor 3 | 1 test |
Wilms tumor 4 | 1 test |
Wilms tumor 5 | 1 test |
X chromosome deletion/duplication | 9 tests |
X chromosome, duplication Xq13 1 q21 1 | 9 tests |
X chromosome, monosomy Xq28 | 9 tests |
X chromosome, trisomy Xp3 | 9 tests |
X chromosome, trisomy Xpter Xq13 | 9 tests |
X chromosome, trisomy Xq25 | 1 test |
X small rings | 8 tests |
X-linked acrogigantism due to Xq26 microduplication | 1 test |
X-linked intellectual disability-retinitis pigmentosa syndrome | 1 test |
Xp22.13p22.2 duplication syndrome | 1 test |
Xp22.3 microdeletion syndrome | 1 test |
Xq12-q13.3 duplication syndrome | 1 test |
Xq25 microduplication syndrome | 1 test |
Xq27.3q28 duplication syndrome | 1 test |
Y chromosome deletions | 9 tests |