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GTR Home > Laboratories > Institute for Genomic Medicine (IGM) Clinical Laboratory

Institute for Genomic Medicine (IGM) Clinical Laboratory

GTR Lab ID: 196472, Last updated:2023-01-11

Personnel

  • Director: Yassmine Akkari, PhD, ABMG, FACMG, DABMG, Lab Director
    Phone: 614-722-2859
    Fax: 614-722-5471
  • Director: Ying-Chen (Claire) Hou, PhD, ABMG, FACMG, DABMG, Lab Director
    Phone: 614-355-5907
    Fax: 614-722-5471
  • Director: Hui Mei, PhD, ABMG, FACMG, DABMG, Lab Director
    Phone: 614-722-0786
    Fax: 614-722-5471
  • Director: Melanie Babcock, PhD, ABMG, FACMG, DABMG, Lab Director
    Phone: 614-355-4595
    Fax: 614-722-5471
  • Director: Catherine Cottrell, PhD, ABMG, FACMG, DABMG, Lab Director
    Phone: 614-722-2851
    Fax: 614-722-5471
  • Director: Jesse Hunter, PhD, ABMG, DABMG, Lab Director
    Phone: 614-355-3081
    Fax: 614-722-5471
  • Director: Marco Leung, PhD, ABMG, FACMG, DABMG, Lab Director
    Phone: 614-355-5839
    Fax: 614-722-5471
  • Director: Mariam Mathew, PhD, ABMG, FACMG, DABMG, Lab Director
    Phone: 614-355-3675
    Fax: 614-722-5471
  • Director: Shalini Reshmi, PhD, ABMG, FACMG, DABMG, Lab Director
    Phone: 614-722-5779
    Fax: 614-722-5471
  • Director: Kathleen Schieffer, PhD, ABMG, DABMG, Lab Director
    Phone: 614-355-2894
    Fax: 614-722-5471
  • George Kyle, MS, Certified Genetic counselor, CGC, Genetic Counselor
    Phone: 614-355-5275
    Fax: 614-355-4454
    Email: George.Kyle@nationwidechildrens.org
  • Theodora Matthews, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
    Phone: 614-722-5346
    Fax: 614-355-4454
    Email: Theodora.Matthews@nationwidechildrens.org
  • Danielle Mouhlas, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
    Phone: 614-722-5229
    Fax: 614-355-4454
    Email: Danielle.Mouhlas@nationwidechildrens.org
  • Cortlandt Myers, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
    Phone: 614-355-7237
    Fax: 614-355-4454
    Email: Cortlandt.Myers@nationwidechildrens.org
  • Amy Siemon, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
    Phone: 614-355-6664
    Fax: 614-355-4454
    Email: Amy.Siemon@nationwidechildrens.org
  • Taylor Porter, MS, Genetic Counselor
    Phone: 614-355-6897
    Fax: 614-355-4454
    Email: Taylor.Porter@nationwidechildrens.org

Conditions and 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
  • Acute lymphoid leukemia2 tests
  • 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
  • Atypical Norrie disease due to monosomy Xp11.39 tests
  • Autism spectrum disorder1 test
  • Autosomal chromosomal disorder10 tests
  • Autosomal monosomy9 tests
  • Autosomal trisomy9 tests
  • B-cell acute lymphoblastic leukemia2 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
  • 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 11p, partial deletion9 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, partial deletions9 tests
  • Chromosome 14q, proximal duplication1 test
  • Chromosome 14q11-q22 deletion syndrome1 test
  • Chromosome 15, distal trisomy 15q9 tests
  • Chromosome 15q duplication mosaicism1 test
  • Chromosome 15q, partial deletion9 tests
  • 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
  • Complete trisomy 13 syndrome8 tests
  • Complete trisomy 18 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 9p9 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
  • Endometrial cancer1 test
  • Endometrial neoplasm1 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
  • 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
  • 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
  • Myelodysplastic syndrome associated with isolated del(5q)9 tests
  • Nephroblastoma1 test
  • Neuroblastoma3 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 monosomy9 tests
  • Partial autosomal trisomy/tetrasomy9 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 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
  • 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 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

  • CLIAHelp, Number: 36D0665271, Expiration date: 2023-02-08
  • CLIA, Number: 36D2131848, Expiration date: 2024-11-27
  • 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.