Institute for Genomic Medicine (IGM) Clinical Laboratory

Institute for Genomic Medicine (IGM) Clinical Laboratory, ChildLab, IGM
Nationwide Children's Hospital (NCH)
Department: Institute for Genomic Medicine (IGM)
700 Children's Drive
Columbus, Ohio, United States 43205
Phone: 614-722-5321
Fax: 614-722-5471

Online Contact: https://www.nationwidechildrens.org/specialties/laboratory-services
Website: https://www.nationwidechildrens.org/specialties/laboratory-services
Affiliated with:
- Nationwide Children's Hospital, https://www.nationwidechildrens.org/

Submissions in ClinVar
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GTR Lab ID: 196472, Last updated:2023-07-14

Personnel

Director: Yassmine Akkari, PhD, FACMG, Lab Director
Phone: 614-722-5321
Fax: 614-722-5471
Director: Melanie Babcock, PhD, FACMG, Lab Director
Phone: 614-722-5321
Fax: 614-722-5471
Director: Catherine Cottrell, PhD, FACMG, Lab Director
Phone: 614-722-5321
Fax: 614-722-5471
Director: Ying-Chen (Claire) Hou, PhD, Lab Director
Phone: 614-722-5321
Fax: 614-722-5471
Director: Jesse Hunter, PhD, FACMG, Lab Director
Phone: 614-722-5321
Fax: 614-722-5471
Director: Marco Leung, PhD, FACMG, Lab Director
Phone: 614-722-5321
Fax: 614-722-5471
Director: Mariam Mathew, PhD, FACMG, Lab Director
Phone: 614-722-5321
Fax: 614-722-5471
Director: Hui Mei, PhD, FACMG, Lab Director
Phone: 614-722-5321
Fax: 614-722-5471
Director: Shalini Reshmi, PhD, FACMG, Lab Director
Phone: 614-722-5321
Fax: 614-722-5471
Director: Kathleen Schieffer, PhD, FACMG, Lab Director
Phone: 614-722-5321
Fax: 614-722-5471
Director: Karen Tsuchiya, MD, FACMG, Lab Director
Phone: 614-722-5321
Fax: 614-722-5471
George Kyle, MS, Certified Genetic counselor, CGC, Genetic Counselor
Phone: 614-722-5321
Fax: 614-355-4454
Email: George.Kyle@nationwidechildrens.org
Theodora Matthews, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
Phone: 614-722-5321
Fax: 614-355-4454
Email: Theodora.Matthews@nationwidechildrens.org
Danielle Mouhlas, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
Phone: 614-722-5321
Fax: 614-355-4454
Email: Danielle.Mouhlas@nationwidechildrens.org
Cortlandt Myers, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
Phone: 614-722-5321
Fax: 614-355-4454
Email: Cortlandt.Myers@nationwidechildrens.org
Amy Siemon, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
Phone: 614-722-5321
Fax: 614-355-4454
Email: Amy.Siemon@nationwidechildrens.org
Taylor Porter, MS, Genetic Counselor
Phone: 614-722-5321
Fax: 614-355-4454
Email: Taylor.Porter@nationwidechildrens.org

Conditions and tests

558 conditions/phenotypes with 31 tests
Enter text to narrow down the list

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
Cardiofaciocutaneous syndrome 11 test
CBL-related disorder1 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 17p deletion9 tests
Chromosome 17p13.1 deletion syndrome1 test
Chromosome 17p13.3 duplication syndrome1 test
Chromosome 17P13.3, telomeric, 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 1qter 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, 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 4p9 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 5p13 duplication syndrome1 test
Chromosome 5q12 deletion syndrome1 test
Chromosome 5q14.3 deletion syndrome1 test
Chromosome 5Q14.3 deletion syndrome, distal1 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
Costello syndrome1 test
Cystic fibrosis1 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
DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion1 test
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 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
Distal Xq28 microduplication syndrome1 test
Duplication/inversion 15q111 test
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion1 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
Legius syndrome1 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
Neurofibromatosis-Noonan syndrome1 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
Noonan syndrome1 test
Noonan syndrome with multiple lentigines1 test
Noonan syndrome-like disorder with loose anagen hair 11 test
Okihiro syndrome due to 20q13 microdeletion1 test
Partial autosomal deletion9 tests
Partial autosomal duplication/triplication9 tests
Partial chromosome Y deletion9 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 deletion of Y9 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
RASopathy1 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

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Maternal cell contamination study (MCC)
Mutation Confirmation

List of certifications/licenses

Certifications

CLIAHelpCertification number assigned by the Clinical Laboratory Improvement Amendments (CLIA) program to the laboratory director. Minimal field for US labs offering clinical tests. Optional field for international labs or US labs performing research tests. If pending renewal or record has not been updated, the expiration date may be in the past., Number: 36D2131848, Expiration date: 2024-11-27
CLIA, Number: 36D0665271, Expiration date: 2025-02-08
CAP, Number: 1637201, Expiration date: 2024-11-15
CAP, Number: 8162772, Expiration date: 2024-11-15

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.