GTR Home > Laboratories > Genomic Diagnostic Laboratory, Division of Genomic Diagnostics

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics

GTR Lab ID: 165021, Last updated:2021-10-07

Personnel

  • Director: Marilyn Li, MD, Lab Director
  • Director: Nancy Spinner, PhD, Lab Director
  • Colleen Campbell, MS, CGC, Certified Genetic counselor, CGC, Lab Associate Director
    Phone: 267-426-1447
    Fax: 215-590-3514
    Email: campbellcd@chop.edu
  • DGD GeneticCounselor, Genetic Counselor
    Email: DGDGeneticCounselor@chop.edu

Conditions and tests

  • 2q24 microdeletion syndrome1 test
  • 46,XY disorder of sex development and 46,XY complete gonadal dysgenesis1 test
  • 8p23.1 microdeletion syndrome1 test
  • Acrofacial dysostosis, Cincinnati type3 tests
  • Acromesomelic dysplasia, Demirhan type6 tests
  • Acute lymphoid leukemia4 tests
  • Acute myeloid leukemia4 tests
  • Alagille syndrome 111 tests
  • Alagille syndrome 211 tests
  • alpha Thalassemia2 tests
  • Alpha-1-antitrypsin deficiency2 tests
  • Alport syndrome 1, X-linked recessive7 tests
  • Alport syndrome 3, autosomal dominant4 tests
  • Alport syndrome, autosomal recessive4 tests
  • Alstrom syndrome1 test
  • Alveolar capillary dysplasia with pulmonary venous misalignment9 tests
  • Anemia1 test
  • Angelman syndrome2 tests
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis6 tests
  • Aortic aneurysm, familial thoracic 103 tests
  • Aortic aneurysm, familial thoracic 11, susceptibility to3 tests
  • Aortic aneurysm, familial thoracic 43 tests
  • Aortic aneurysm, familial thoracic 63 tests
  • Aortic aneurysm, familial thoracic 73 tests
  • Aortic aneurysm, familial thoracic 93 tests
  • Aortic valve disease 13 tests
  • Aortic valve disease 23 tests
  • Arginine:glycine amidinotransferase deficiency1 test
  • Arterial tortuosity syndrome3 tests
  • Arthrogryposis, renal dysfunction, and cholestasis 12 tests
  • Arthrogryposis, renal dysfunction, and cholestasis 22 tests
  • Ataxia-telangiectasia syndrome9 tests
  • Atrial fibrillation, familial, 76 tests
  • Auriculocondylar syndrome 23 tests
  • Auriculocondylar syndrome 33 tests
  • Autism spectrum disorder1 test
  • Autism, susceptibility to, X-linked 41 test
  • Autoimmune disease, multisystem, infantile-onset, 13 tests
  • Autoimmune interstitial lung, joint, and kidney disease6 tests
  • Autoimmune lymphoproliferative syndrome type V3 tests
  • Autoimmune lymphoproliferative syndrome, type III3 tests
  • Autosomal dominant nonsyndromic deafness 171 test
  • Autosomal dominant nonsyndromic deafness 221 test
  • Autosomal dominant nonsyndromic deafness 2A1 test
  • Autosomal dominant nonsyndromic deafness 61 test
  • Autosomal recessive cutis laxa type 1B3 tests
  • B-cell acute lymphoblastic leukemia1 test
  • Bainbridge-Ropers syndrome4 tests
  • Baller-Gerold syndrome3 tests
  • Bartter disease type 4a1 test
  • Beckwith-Wiedemann syndrome2 tests
  • Benign familial neonatal seizures 11 test
  • Benign familial neonatal seizures 21 test
  • Benign recurrent intrahepatic cholestasis type 22 tests
  • beta Thalassemia2 tests
  • Blepharophimosis, ptosis, and epicanthus inversus3 tests
  • Bloom syndrome2 tests
  • Bohring-Opitz syndrome3 tests
  • Bone fragility with contractures, arterial rupture, and deafness3 tests
  • Brain malformations and urinary tract defects1 test
  • Branchiootic syndrome 13 tests
  • Branchiootic syndrome 36 tests
  • Branchiootorenal syndrome 26 tests
  • Breast-ovarian cancer, familial 17 tests
  • Breast-ovarian cancer, familial 27 tests
  • Brooke-Spiegler syndrome2 tests
  • Brown-Vialetto-Van Laere syndrome 21 test
  • C syndrome6 tests
  • Capillary malformation-arteriovenous malformation 16 tests
  • CARASIL syndrome2 tests
  • Carcinoma of colon1 test
  • Carcinoma of pancreas5 tests
  • Cardiac valvular dysplasia, X-linked3 tests
  • Cardiofaciocutaneous syndrome 31 test
  • Cardiofaciocutaneous syndrome 41 test
  • Carney complex, type 13 tests
  • Carpenter syndrome 16 tests
  • Carpenter syndrome 26 tests
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 12 tests
  • Cerebral folate transport deficiency1 test
  • Cerebro-costo-mandibular syndrome3 tests
  • Cerebroretinal microangiopathy with calcifications and cysts1 test
  • Ceroid lipofuscinosis, neuronal, 131 test
  • Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant1 test
  • CHARGE association4 tests
  • Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia1 test
  • Chitayat syndrome3 tests
  • Cholestasis, benign recurrent intrahepatic 12 tests
  • Cholestasis, intrahepatic, of pregnancy 32 tests
  • Cholestasis, intrahepatic, of pregnancy, 12 tests
  • Cholestasis, progressive familial intrahepatic 12 tests
  • Cholestasis, progressive familial intrahepatic, 52 tests
  • Chondrosarcoma1 test
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress6 tests
  • Chromosome 1, deletion q21 q251 test
  • Chromosome 1, duplication 1p21 p321 test
  • Chromosome 1, monosomy 1p22 p131 test
  • Chromosome 1, monosomy 1p31 p221 test
  • Chromosome 1, monosomy 1p321 test
  • Chromosome 1, monosomy 1p34 p321 test
  • Chromosome 1, monosomy 1q25 q321 test
  • Chromosome 1, monosomy 1q32 q421 test
  • Chromosome 1, trisomy 1q32 qter1 test
  • Chromosome 1, trisomy 1q42-qter1 test
  • Chromosome 1, uniparental disomy 1q12 q211 test
  • Chromosome 10, distal trisomy 10q1 test
  • Chromosome 10, trisomy 10pter p131 test
  • Chromosome 10q22.3-q23.2 deletion syndrome1 test
  • Chromosome 10q26 deletion syndrome1 test
  • Chromosome 11, deletion 11p1 test
  • Chromosome 11, partial trisomy 11q1 test
  • Chromosome 11;14 translocation1 test
  • Chromosome 11p, partial deletion1 test
  • Chromosome 11q trisomy1 test
  • Chromosome 12p deletion1 test
  • Chromosome 13, partial monosomy 13q1 test
  • Chromosome 13p duplication1 test
  • Chromosome 13q deletion1 test
  • Chromosome 13q-mosaicism1 test
  • Chromosome 13q14 deletion syndrome1 test
  • Chromosome 14 deletion1 test
  • Chromosome 14 trisomy1 test
  • Chromosome 14, deletion 14q, partial duplication 14p1 test
  • Chromosome 14;16 translocation1 test
  • Chromosome 14q, partial deletions1 test
  • Chromosome 14q, proximal duplication1 test
  • Chromosome 14q11-q22 deletion syndrome1 test
  • Chromosome 15, distal trisomy 15q1 test
  • Chromosome 15q duplication mosaicism1 test
  • Chromosome 15q, partial deletion1 test
  • Chromosome 15q, tetrasomy1 test
  • Chromosome 15q11-q13 duplication syndrome1 test
  • Chromosome 15q11.2 deletion syndrome1 test
  • Chromosome 15q11.2 duplication syndrome1 test
  • Chromosome 15q25 deletion syndrome1 test
  • Chromosome 15q26-qter deletion syndrome1 test
  • Chromosome 16 inversion, 0.45-mb1 test
  • Chromosome 16 trisomy1 test
  • Chromosome 16, uniparental disomy1 test
  • Chromosome 16p11.2 deletion syndrome, 220 kb1 test
  • Chromosome 16p11.2 duplication syndrome1 test
  • Chromosome 16p12.1 deletion syndrome, 520kb1 test
  • Chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-MB1 test
  • Chromosome 16p13.3 duplication syndrome1 test
  • Chromosome 16q22 deletion syndrome1 test
  • Chromosome 17, deletion 17q23 q241 test
  • Chromosome 17, duplication1 test
  • Chromosome 17p deletion1 test
  • Chromosome 17p13.1 deletion syndrome1 test
  • Chromosome 17p13.3, centromeric, duplication syndrome1 test
  • Chromosome 17q11.2 deletion syndrome, 1.4 MB1 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 17q23.1-q23.2 duplication syndrome1 test
  • Chromosome 18 mosaic monosomy1 test
  • Chromosome 18 pericentric inversion1 test
  • Chromosome 19 ring syndrome1 test
  • Chromosome 19p13.13 deletion syndrome1 test
  • Chromosome 19q13.11 deletion syndrome1 test
  • Chromosome 1p36 deletion syndrome1 test
  • Chromosome 1q deletion1 test
  • Chromosome 1q, duplication 1q12 q211 test
  • Chromosome 1q21.1 duplication syndrome1 test
  • CHROMOSOME 1qter DELETION SYNDROME1 test
  • Chromosome 2, duplication(2)(p13)(p21)1 test
  • Chromosome 2, monosomy 2p221 test
  • Chromosome 2, monosomy 2pter p241 test
  • Chromosome 2, trisomy 2pter p241 test
  • Chromosome 2, trisomy 2q371 test
  • Chromosome 21, monosomy 21q221 test
  • Chromosome 21, tetrasomy 21q1 test
  • Chromosome 21, uniparental disomy of1 test
  • Chromosome 22, monosome mosaic1 test
  • Chromosome 22, trisomy q11 q131 test
  • Chromosome 22q deletion1 test
  • Chromosome 22q11.2 deletion syndrome, distal1 test
  • Chromosome 22q13 duplication syndrome1 test
  • Chromosome 2p12-p11.2 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 3p1 test
  • Chromosome 3, monosomy 3p14 p111 test
  • Chromosome 3, monosomy 3q131 test
  • Chromosome 3, monosomy 3q21 231 test
  • Chromosome 3, monosomy 3q271 test
  • Chromosome 3, trisomy 3p251 test
  • Chromosome 3, trisomy 3q13 2 q251 test
  • Chromosome 3pter-p25 deletion syndrome1 test
  • Chromosome 3q13.31 deletion syndrome1 test
  • Chromosome 3q29 microduplication syndrome1 test
  • Chromosome 4 short arm deletion1 test
  • Chromosome 4, monosomy 4p14 p161 test
  • Chromosome 4, monosomy 4q321 test
  • Chromosome 4, monosomy distal 4q1 test
  • Chromosome 4, partial trisomy distal 4q1 test
  • Chromosome 4, Trisomy 4p1 test
  • Chromosome 4, trisomy 4q211 test
  • Chromosome 4, trisomy 4q25 qter1 test
  • Chromosome 4q21 deletion syndrome1 test
  • Chromosome 4q32.1-q32.2 triplication syndrome1 test
  • Chromosome 5, trisomy 5pter p13 31 test
  • Chromosome 5, uniparental disomy1 test
  • Chromosome 5p13 duplication syndrome1 test
  • Chromosome 5q12 deletion syndrome1 test
  • Chromosome 5q14.3 deletion syndrome1 test
  • Chromosome 6, deletion 6q13 q151 test
  • Chromosome 6, monosomy 6p231 test
  • Chromosome 6, monosomy 6q11 test
  • Chromosome 6, monosomy 6q21 test
  • Chromosome 6pter-p24 deletion syndrome1 test
  • Chromosome 6q24-q25 deletion syndrome1 test
  • Chromosome 7, monosomy1 test
  • Chromosome 7, monosomy 7q21 test
  • Chromosome 7, monosomy 7q211 test
  • Chromosome 7, monosomy 7q31 test
  • Chromosome 7, partial monosomy 7p1 test
  • Chromosome 7, trisomy 7p13 p12 21 test
  • Chromosome 7q11.23 deletion syndrome, distal, 1.2-mb1 test
  • Chromosome 8, monosomy 8p1 test
  • Chromosome 8, monosomy 8p21 test
  • Chromosome 8, mosaic trisomy1 test
  • Chromosome 8, partial trisomy1 test
  • Chromosome 8-derived supernumerary ring/marker1 test
  • Chromosome 8p11 myeloproliferative syndrome1 test
  • Chromosome 8q21.11 deletion syndrome1 test
  • Chromosome 9 translocation1 test
  • Chromosome 9, deletion 9q21.33q22.321 test
  • Chromosome 9, duplication 9q211 test
  • Chromosome 9, trisomy 9p1 test
  • Chromosome 9, trisomy 9q1 test
  • Chromosome 9, trisomy 9q321 test
  • Chromosome 9p deletion syndrome1 test
  • Chromosome 9q duplication1 test
  • Chromosome Xp11.3 deletion syndrome1 test
  • Chromosome Xp21 deletion syndrome1 test
  • Chromosome Xq26.3 duplication syndrome1 test
  • Chromosome Xq27.3-q28 duplication syndrome1 test
  • Chromosome Xq28 deletion syndrome1 test
  • Chromosomes 1 and 2, monosomy 2q duplication 1p1 test
  • Chudley-McCullough syndrome1 test
  • Chylomicron retention disease3 tests
  • Ciliary dyskinesia, primary, 106 tests
  • Ciliary dyskinesia, primary, 116 tests
  • Ciliary dyskinesia, primary, 126 tests
  • Ciliary dyskinesia, primary, 136 tests
  • Ciliary dyskinesia, primary, 146 tests
  • Ciliary dyskinesia, primary, 156 tests
  • Ciliary dyskinesia, primary, 166 tests
  • Ciliary dyskinesia, primary, 176 tests
  • Ciliary dyskinesia, primary, 186 tests
  • Ciliary dyskinesia, primary, 196 tests
  • Ciliary dyskinesia, primary, 26 tests
  • Ciliary dyskinesia, primary, 206 tests
  • Ciliary dyskinesia, primary, 216 tests
  • Ciliary dyskinesia, primary, 224 tests
  • Ciliary dyskinesia, primary, 263 tests
  • Ciliary dyskinesia, primary, 276 tests
  • Ciliary dyskinesia, primary, 286 tests
  • Ciliary dyskinesia, primary, 296 tests
  • Ciliary dyskinesia, primary, 36 tests
  • Ciliary dyskinesia, primary, 306 tests
  • Ciliary dyskinesia, primary, 326 tests
  • Ciliary dyskinesia, primary, 336 tests
  • Ciliary dyskinesia, primary, 56 tests
  • Ciliary dyskinesia, primary, 66 tests
  • Ciliary dyskinesia, primary, 76 tests
  • Ciliary dyskinesia, primary, 96 tests
  • Classic homocystinuria1 test
  • Cleidocranial dysostosis6 tests
  • Coffin-Siris syndrome 12 tests
  • Colorectal cancer 102 tests
  • Colorectal cancer, susceptibility to, 121 test
  • Combined oxidative phosphorylation deficiency 271 test
  • Common variable immunodeficiency 13 tests
  • Common variable immunodeficiency 103 tests
  • Common variable immunodeficiency 113 tests
  • Common variable immunodeficiency 73 tests
  • Common variable immunodeficiency 8, with autoimmunity3 tests
  • Congenital amegakaryocytic thrombocytopenia1 test
  • Congenital bilateral aplasia of vas deferens from CFTR mutation3 tests
  • Congenital bile acid synthesis defect 12 tests
  • Congenital bile acid synthesis defect 22 tests
  • Congenital central hypoventilation3 tests
  • Congenital contractural arachnodactyly3 tests
  • Congenital dyserythropoietic anemia type type 1B1 test
  • Congenital dyserythropoietic anemia, type I1 test
  • Congenital glucose-galactose malabsorption3 tests
  • Congenital hereditary endothelial dystrophy of the cornea1 test
  • Congenital lactase deficiency3 tests
  • Congenital microvillous atrophy5 tests
  • Congenital muscular hypertrophy-cerebral syndrome3 tests
  • Congenital secretory diarrhea, chloride type3 tests
  • Congenital secretory diarrhea, sodium type3 tests
  • Cornelia de Lange syndrome 13 tests
  • Cornelia de Lange syndrome 33 tests
  • Cornelia de Lange syndrome 43 tests
  • Cornelia de Lange syndrome 53 tests
  • Costello syndrome1 test
  • Cowden syndrome 18 tests
  • Cranioectodermal dysplasia 16 tests
  • Cranioectodermal dysplasia 26 tests
  • Cranioectodermal dysplasia 36 tests
  • Cranioectodermal dysplasia 43 tests
  • Craniofrontonasal syndrome9 tests
  • Craniosynostosis 16 tests
  • Craniosynostosis 23 tests
  • Craniosynostosis 36 tests
  • Craniosynostosis 43 tests
  • Craniosynostosis 66 tests
  • Creatine transporter deficiency1 test
  • Cutaneous malignant melanoma 34 tests
  • Cylindromatosis, familial1 test
  • Cystic fibrosis14 tests
  • Deafness and myopia1 test
  • Deafness with labyrinthine aplasia microtia and microdontia (LAMM)1 test
  • Deafness, autosomal dominant 11 test
  • Deafness, autosomal dominant 101 test
  • Deafness, autosomal dominant 111 test
  • Deafness, autosomal dominant 121 test
  • Deafness, autosomal dominant 131 test
  • Deafness, autosomal dominant 151 test
  • Deafness, autosomal dominant 231 test
  • Deafness, autosomal dominant 251 test
  • Deafness, autosomal dominant 281 test
  • Deafness, autosomal dominant 361 test
  • Deafness, autosomal dominant 441 test
  • Deafness, autosomal dominant 4b1 test
  • Deafness, autosomal dominant 51 test
  • Deafness, autosomal dominant 651 test
  • Deafness, autosomal dominant 671 test
  • Deafness, autosomal recessive 1011 test
  • Deafness, autosomal recessive 1021 test
  • Deafness, autosomal recessive 1031 test
  • Deafness, autosomal recessive 121 test
  • Deafness, autosomal recessive 151 test
  • Deafness, autosomal recessive 164 tests
  • Deafness, autosomal recessive 181 test
  • Deafness, autosomal recessive 18b1 test
  • Deafness, autosomal recessive 1A2 tests
  • Deafness, autosomal recessive 1b1 test
  • Deafness, autosomal recessive 21 test
  • Deafness, autosomal recessive 211 test
  • Deafness, autosomal recessive 221 test
  • Deafness, autosomal recessive 231 test
  • Deafness, autosomal recessive 241 test
  • Deafness, autosomal recessive 251 test
  • Deafness, autosomal recessive 281 test
  • Deafness, autosomal recessive 291 test
  • Deafness, autosomal recessive 31 test
  • Deafness, autosomal recessive 301 test
  • Deafness, autosomal recessive 311 test
  • Deafness, autosomal recessive 351 test
  • Deafness, autosomal recessive 36, with or without vestibular involvement1 test
  • Deafness, autosomal recessive 371 test
  • Deafness, autosomal recessive 391 test
  • Deafness, autosomal recessive 421 test
  • Deafness, autosomal recessive 481 test
  • Deafness, autosomal recessive 491 test
  • Deafness, autosomal recessive 531 test
  • Deafness, autosomal recessive 591 test
  • Deafness, autosomal recessive 61 test
  • Deafness, autosomal recessive 631 test
  • Deafness, autosomal recessive 671 test
  • Deafness, autosomal recessive 681 test
  • Deafness, autosomal recessive 71 test
  • Deafness, autosomal recessive 741 test
  • Deafness, autosomal recessive 761 test
  • Deafness, autosomal recessive 771 test
  • Deafness, autosomal recessive 791 test
  • Deafness, autosomal recessive 841 test
  • Deafness, autosomal recessive 84b1 test
  • Deafness, autosomal recessive 861 test
  • Deafness, autosomal recessive 91 test
  • Deafness, autosomal recessive 911 test
  • Deafness, autosomal recessive 931 test
  • Deafness, autosomal recessive 981 test
  • Deafness, congenital, with onychodystrophy, autosomal dominant1 test
  • Deafness, X-linked 11 test
  • Deafness, X-linked 21 test
  • Deafness, X-linked 41 test
  • Deficiency of acetyl-CoA acetyltransferase6 tests
  • Deficiency of guanidinoacetate methyltransferase1 test
  • Deletion of long arm of chromosome 181 test
  • Deletion of short arm of chromosome 181 test
  • Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency6 tests
  • Desmoid disease, hereditary5 tests
  • Developmental and epileptic encephalopathy 911 test
  • Developmental and epileptic encephalopathy 941 test
  • Developmental and epileptic encephalopathy, 251 test
  • Developmental and epileptic encephalopathy, 661 test
  • Developmental and epileptic encephalopathy, 691 test
  • Developmental and epileptic encephalopathy, 841 test
  • Developmental and epileptic encephalopathy, 85, with or without midline brain defects1 test
  • Diamond-Blackfan anemia1 test
  • Diaphyseal medullary stenosis-bone malignancy syndrome1 test
  • Diarrhea 4, malabsorptive, congenital3 tests
  • Diarrhea 5, with tufting enteropathy, congenital3 tests
  • Diarrhea 63 tests
  • Diarrhea 73 tests
  • Diarrhea 8, secretory sodium, congenital3 tests
  • DiGeorge Syndrome3 tests
  • Distal monosomy 9p1 test
  • Distal trisomy 14q1 test
  • Distal trisomy 6q1 test
  • Dubin-Johnson syndrome2 tests
  • Dyskeratosis congenita1 test
  • Dyskeratosis congenita, autosomal dominant 13 tests
  • Dyskeratosis congenita, autosomal dominant, 23 tests
  • Dyskeratosis congenita, X-linked7 tests
  • Early infantile epileptic encephalopathy 101 test
  • Early infantile epileptic encephalopathy 111 test
  • Early infantile epileptic encephalopathy 121 test
  • Early infantile epileptic encephalopathy 131 test
  • Early infantile epileptic encephalopathy 151 test
  • Early infantile epileptic encephalopathy 161 test
  • Early infantile epileptic encephalopathy 171 test
  • Early infantile epileptic encephalopathy 181 test
  • Early infantile epileptic encephalopathy 21 test
  • Early infantile epileptic encephalopathy 341 test
  • Early infantile epileptic encephalopathy 41 test
  • Early infantile epileptic encephalopathy 51 test
  • Early infantile epileptic encephalopathy 621 test
  • Early infantile epileptic encephalopathy 71 test
  • Early infantile epileptic encephalopathy 81 test
  • Early infantile epileptic encephalopathy 91 test
  • Early myoclonic encephalopathy1 test
  • EAST syndrome1 test
  • Ehlers-Danlos syndrome, arthrochalasia type, 13 tests
  • Ehlers-Danlos syndrome, cardiac valvular type3 tests
  • Ehlers-Danlos syndrome, classic type3 tests
  • Ehlers-Danlos syndrome, hydroxylysine-deficient3 tests
  • Ehlers-Danlos syndrome, type 46 tests
  • Elliptocytosis1 test
  • Ellis-van Creveld syndrome3 tests
  • Encephalopathy, familial, with neuroserpin inclusion bodies1 test
  • Endometrial carcinoma1 test
  • Enlarged vestibular aqueduct syndrome1 test
  • Epilepsy1 test
  • Epilepsy, childhood absence 21 test
  • Epilepsy, familial focal, with variable foci 21 test
  • Epilepsy, familial focal, with variable foci 31 test
  • Epilepsy, familial temporal lobe, 71 test
  • Epilepsy, focal, with speech disorder and with or without mental retardation1 test
  • Epilepsy, hearing loss, and mental retardation syndrome1 test
  • Epilepsy, idiopathic generalized 81 test
  • Epilepsy, idiopathic generalized, susceptibility to, 121 test
  • Epilepsy, idiopathic generalized, susceptibility to, 151 test
  • Epilepsy, juvenile myoclonic 51 test
  • Epilepsy, progressive myoclonic 31 test
  • Epilepsy, progressive myoclonic 4, with or without renal failure1 test
  • Epilepsy, X-linked, with variable learning disabilities and behavior disorders1 test
  • Epileptic encephalopathy, early infantile, 11 test
  • Epileptic encephalopathy, early infantile, 191 test
  • Epileptic encephalopathy, early infantile, 261 test
  • Epileptic encephalopathy, early infantile, 271 test
  • Epileptic encephalopathy, early infantile, 281 test
  • Epileptic encephalopathy, early infantile, 311 test
  • Epileptic encephalopathy, early infantile, 321 test
  • Epileptic encephalopathy, early infantile, 331 test
  • Epileptic encephalopathy, early infantile, 351 test
  • Epileptic encephalopathy, early infantile, 361 test
  • Epileptic encephalopathy, early infantile, 421 test
  • Epileptic encephalopathy, early infantile, 431 test
  • Epileptic encephalopathy, early infantile, 441 test
  • Epileptic encephalopathy, early infantile, 521 test
  • Epileptic encephalopathy, early infantile, 531 test
  • Epileptic encephalopathy, early infantile, 541 test
  • Epiphyseal dysplasia, multiple, 31 test
  • Episodic ataxia type 11 test
  • Exercise-induced hyperinsulinism6 tests
  • Familial adenomatous polyposis 15 tests
  • Familial atypical mycobacteriosis, type 1, X-linked6 tests
  • Familial cancer of breast6 tests
  • Familial febrile seizures 81 test
  • Familial focal epilepsy with variable foci1 test
  • Familial hemophagocytic lymphohistiocytosis3 tests
  • Familial hypercholesterolemia 23 tests
  • Familial platelet disorder with associated myeloid malignancy1 test
  • Familial pulmonary capillary hemangiomatosis6 tests
  • Familial temporal lobe epilepsy 11 test
  • Fanconi anemia1 test
  • Fanconi anemia, complementation group A2 tests
  • Fanconi anemia, complementation group C1 test
  • Fanconi anemia, complementation group G1 test
  • Fanconi anemia, complementation group N1 test
  • Fanconi anemia, complementation group O2 tests
  • Fanconi anemia, complementation group Q1 test
  • Feingold syndrome 13 tests
  • Feingold syndrome 23 tests
  • Fragile X syndrome1 test
  • Frontonasal dysplasia 13 tests
  • Frontonasal dysplasia 23 tests
  • Frontonasal dysplasia 33 tests
  • Fructose-biphosphatase deficiency3 tests
  • Gastrointestinal stromal tumor2 tests
  • Generalized epilepsy with febrile seizures plus, type 11 test
  • Generalized epilepsy with febrile seizures plus, type 21 test
  • Generalized epilepsy with febrile seizures plus, type 91 test
  • Generalized juvenile polyposis/juvenile polyposis coli4 tests
  • Gilbert syndrome1 test
  • Glioma of brain1 test
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA6 tests
  • Glycogen storage disease due to hepatic glycogen synthase deficiency6 tests
  • Glycogen storage disease IXb6 tests
  • Glycogen storage disease IXc6 tests
  • Glycogen storage disease IXd3 tests
  • Glycogen storage disease type III6 tests
  • Glycogen storage disease type IXa16 tests
  • Glycogen storage disease, type II3 tests
  • Glycogen storage disease, type IV3 tests
  • Glycogen storage disease, type VI6 tests
  • Glycogen storage disease, type VII4 tests
  • GM3 synthase deficiency1 test
  • Gorlin syndrome2 tests
  • Greig cephalopolysyndactyly syndrome3 tests
  • Hematologic neoplasm3 tests
  • Hemolytic anemia1 test
  • Hepatocellular carcinoma2 tests
  • Hereditary diffuse gastric cancer4 tests
  • Hereditary hemorrhagic telangiectasia type 16 tests
  • Hereditary leiomyomatosis and renal cell cancer5 tests
  • Hereditary mixed polyposis syndrome 21 test
  • Hereditary nonpolyposis colorectal cancer type 46 tests
  • Hereditary nonpolyposis colorectal cancer type 57 tests
  • Hereditary nonpolyposis colorectal cancer type 85 tests
  • Hereditary pancreatitis3 tests
  • Hereditary pyropoikilocytosis1 test
  • HNSHA due to aldolase A deficiency1 test
  • Hyper-IgM syndrome type 13 tests
  • Hyper-IgM syndrome type 23 tests
  • Hyper-IgM syndrome type 53 tests
  • Hypercholanemia, familial2 tests
  • Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive4 tests
  • Hyperparathyroidism 23 tests
  • Hyperphosphatasia with mental retardation syndrome 11 test
  • Hyperphosphatasia with mental retardation syndrome 21 test
  • Hyperphosphatasia with mental retardation syndrome 41 test
  • Hypocalcemia, autosomal dominant 13 tests
  • Hypogonadotropic hypogonadism 5 with or without anosmia3 tests
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 31 test
  • IL21R immunodeficiency3 tests
  • Immunodeficiency 26 with or without neurologic abnormalities3 tests
  • Immunodeficiency 31a3 tests
  • Immunodeficiency 31C3 tests
  • Immunodeficiency 363 tests
  • Immunodeficiency, common variable, 123 tests
  • Immunodeficiency, common variable, 133 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 11 test
  • Infantile nephronophthisis6 tests
  • Inflammatory bowel disease1 test
  • Inherited bone marrow failure syndrome2 tests
  • Interstitial lung and liver disease6 tests
  • Jervell and Lange-Nielsen syndrome 11 test
  • Jervell and Lange-Nielsen syndrome 21 test
  • Joubert syndrome 103 tests
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome10 tests
  • Kabuki syndrome 13 tests
  • Kabuki syndrome 23 tests
  • Kartagener syndrome6 tests
  • KBG syndrome4 tests
  • Kleefstra syndrome 11 test
  • Kostmann syndrome1 test
  • Kugelberg-Welander disease1 test
  • Lafora disease1 test
  • Langer mesomelic dysplasia syndrome3 tests
  • Legius syndrome1 test
  • Leri-Weill dyschondrosteosis3 tests
  • Leukemia, acute lymphoblastic, susceptibility to4 tests
  • Leukemia, acute lymphoblastic, susceptibility to, 31 test
  • Leukemia, acute myeloid, susceptibility to3 tests
  • Li-Fraumeni syndrome 113 tests
  • Li-Fraumeni syndrome 21 test
  • Lig4 syndrome4 tests
  • Lissencephaly, X-linked1 test
  • Loeys-Dietz syndrome 16 tests
  • Loeys-Dietz syndrome 26 tests
  • Loeys-Dietz syndrome 33 tests
  • Loeys-Dietz syndrome 43 tests
  • Lung carcinoma1 test
  • Lymphoma1 test
  • Lymphoproliferative syndrome 12 tests
  • Lymphoproliferative syndrome 1, X-linked4 tests
  • Lymphoproliferative syndrome 23 tests
  • Lymphoproliferative syndrome 2, X-linked3 tests
  • Lynch syndrome I7 tests
  • Lynch syndrome II7 tests
  • Lysinuric protein intolerance6 tests
  • Lysosomal acid lipase deficiency2 tests
  • Macular degeneration, X-linked atrophic1 test
  • Malignant rhabdoid tumor, somatic1 test
  • Malignant tumor of prostate1 test
  • Mandibulofacial dysostosis-microcephaly syndrome3 tests
  • Marfan syndrome9 tests
  • Marshall syndrome3 tests
  • McLeod neuroacanthocytosis syndrome1 test
  • Melanoma and neural system tumor syndrome1 test
  • Melanoma-pancreatic cancer syndrome4 tests
  • Melnick-Fraser syndrome1 test
  • Meningioma, familial7 tests
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia2 tests
  • Mental retardation, autosomal dominant 11 test
  • Mental retardation, autosomal dominant 131 test
  • Mental retardation, autosomal dominant 221 test
  • Mental retardation, autosomal dominant 311 test
  • Mental retardation, autosomal dominant 341 test
  • Mental retardation, autosomal dominant 421 test
  • Mental retardation, autosomal dominant 51 test
  • Mental retardation, autosomal dominant 71 test
  • Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations1 test
  • Mental retardation, X-linked 11 test
  • Mental retardation, X-linked 981 test
  • Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy1 test
  • Miller syndrome3 tests
  • Mitochondrial diseases3 tests
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)1 test
  • Monosomy 211 test
  • Mosaic trisomy 101 test
  • Mosaic trisomy 141 test
  • Mosaic trisomy 151 test
  • Mosaic trisomy 221 test
  • Mosaic trisomy 71 test
  • Mosaic trisomy 91 test
  • Mowat-Wilson syndrome1 test
  • Muir-TorrĂ© syndrome7 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome 11 test
  • Multiple congenital anomalies-hypotonia-seizures syndrome 21 test
  • Multiple congenital anomalies-hypotonia-seizures syndrome 31 test
  • Multiple endocrine neoplasia, type 15 tests
  • Multiple endocrine neoplasia, type 2a4 tests
  • Multiple endocrine neoplasia, type 2b3 tests
  • Multiple endocrine neoplasia, type 42 tests
  • Multiple fibrofolliculomas4 tests
  • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects1 test
  • Myasthenic syndrome, congenital, 181 test
  • Mycobacterial and viral infections, susceptibility to, autosomal recessive3 tests
  • Myelodysplastic syndrome5 tests
  • Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to1 test
  • MYH-associated polyposis4 tests
  • Myhre syndrome3 tests
  • Myoclonic epilepsy, familial infantile1 test
  • Myoclonic-atonic epilepsy1 test
  • Nager syndrome3 tests
  • Neonatal ichthyosis-sclerosing cholangitis syndrome2 tests
  • Neonatal intrahepatic cholestasis caused by citrin deficiency2 tests
  • Neuroblastoma 34 tests
  • Neurodegeneration with brain iron accumulation 51 test
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant1 test
  • Neurofibromatosis, type 13 tests
  • Neurofibromatosis, type 22 tests
  • Neuronal ceroid lipofuscinosis 11 test
  • Neuronal ceroid lipofuscinosis 101 test
  • Neuronal ceroid lipofuscinosis 31 test
  • Neuronal ceroid lipofuscinosis 51 test
  • Neuronal ceroid lipofuscinosis 61 test
  • Neuronal ceroid lipofuscinosis 71 test
  • Neutropenia1 test
  • Neutropenia, severe congenital 1, autosomal dominant1 test
  • Niemann-Pick disease type C12 tests
  • Niemann-Pick disease, type C22 tests
  • Nijmegen breakage syndrome-like disorder3 tests
  • Nonsyndromic Deafness2 tests
  • Noonan syndrome 11 test
  • Noonan syndrome 31 test
  • Noonan syndrome 41 test
  • Noonan syndrome 51 test
  • Noonan syndrome 61 test
  • Noonan syndrome 71 test
  • Noonan syndrome-like disorder with loose anagen hair 11 test
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia2 tests
  • Oculomaxillofacial dysostosis6 tests
  • Oligodontia-colorectal cancer syndrome1 test
  • Opitz GBBB syndrome, type I4 tests
  • Osteogenesis imperfecta type I3 tests
  • Osteogenesis imperfecta type III3 tests
  • Osteogenesis imperfecta with normal sclerae, dominant form3 tests
  • Osteogenesis imperfecta, recessive perinatal lethal3 tests
  • Otofaciocervical syndrome 13 tests
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant4 tests
  • Palmoplantar keratoderma-esophageal carcinoma syndrome1 test
  • Pancreatic cancer 21 test
  • Pancreatic cancer 31 test
  • Pancreatic lipase deficiency3 tests
  • Paragangliomas 23 tests
  • Paragangliomas 54 tests
  • Parietal foramina with cleidocranial dysplasia3 tests
  • Partial deletion of the long arm of chromosome 111 test
  • Partial deletion of the long arm of chromosome 21 test
  • Partial deletion of the long arm of chromosome 41 test
  • Partial deletion of the long arm of chromosome 61 test
  • Partial deletion of the long arm of chromosome 81 test
  • Partial deletion of the short arm of chromosome 11 test
  • Partial deletion of the short arm of chromosome 101 test
  • Partial duplication of the long arm of chromosome 121 test
  • Partial duplication of the long arm of chromosome 151 test
  • Partial duplication of the long arm of chromosome 171 test
  • Partial duplication of the long arm of chromosome 191 test
  • Partial duplication of the long arm of chromosome 21 test
  • Partial duplication of the long arm of chromosome 31 test
  • Partial duplication of the long arm of chromosome 41 test
  • Partial duplication of the long arm of chromosome 71 test
  • Partial duplication of the long arm of chromosome X1 test
  • Partial duplication of the short arm of chromosome 161 test
  • Partial duplication of the short arm of chromosome 21 test
  • Partial duplication of the short arm of chromosome 61 test
  • Partial duplication of the short arm of chromosome 71 test
  • Partial monosomy of the long arm of chromosome 101 test
  • Partial monosomy of the short arm of chromosome 201 test
  • Partial trisomy of the long arm of chromosome 161 test
  • Partial trisomy of the long arm of chromosome 181 test
  • Partial trisomy of the long arm of chromosome 51 test
  • Paternal uniparental disomy of chromosome 141 test
  • Pendred syndrome1 test
  • Perlman syndrome1 test
  • Perrault syndrome 11 test
  • Perrault syndrome 21 test
  • Perrault syndrome 31 test
  • Perrault syndrome 41 test
  • Peutz-Jeghers syndrome6 tests
  • Pheochromocytoma4 tests
  • Phosphate transport defect6 tests
  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic3 tests
  • Phosphoglycerate kinase 1 deficiency1 test
  • Pitt-Hopkins syndrome1 test
  • Pneumothorax, primary spontaneous3 tests
  • Polyarteritis nodosa, childhoood-onset3 tests
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract1 test
  • Potocki-Lupski syndrome1 test
  • Prader-Willi syndrome1 test
  • Prader-Willi-like syndrome associated with chromosome 61 test
  • Primary ciliary dyskinesia 236 tests
  • Primary ciliary dyskinesia 246 tests
  • Primary ciliary dyskinesia 256 tests
  • Primary pulmonary hypertension 16 tests
  • Primary pulmonary hypertension 26 tests
  • Primary pulmonary hypertension 36 tests
  • Primary pulmonary hypertension 46 tests
  • Progressive bulbar palsy of childhood1 test
  • Progressive familial intrahepatic cholestasis 23 tests
  • Progressive familial intrahepatic cholestasis 32 tests
  • Progressive familial intrahepatic cholestasis 42 tests
  • Progressive myoclonus epilepsy with ataxia1 test
  • Proprotein convertase 1/3 deficiency3 tests
  • Prothrombin deficiency, congenital1 test
  • PTEN hamartoma tumor syndrome4 tests
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 13 tests
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 23 tests
  • Purine-nucleoside phosphorylase deficiency3 tests
  • Pyridoxal phosphate-responsive seizures1 test
  • Pyridoxine-dependent epilepsy1 test
  • Pyruvate kinase deficiency of red cells1 test
  • Renal cell carcinoma, papillary, 11 test
  • Renal tubular acidosis with progressive nerve deafness1 test
  • Retinoblastoma2 tests
  • Rett syndrome3 tests
  • Rett syndrome, congenital variant1 test
  • Revesz syndrome1 test
  • Rhabdoid tumor predisposition syndrome 14 tests
  • Rhabdoid tumor predisposition syndrome 22 tests
  • Rhabdomyosarcoma, embryonal, 21 test
  • Ring chromosome 11 test
  • Ring chromosome 101 test
  • Ring chromosome 121 test
  • Ring chromosome 131 test
  • Ring chromosome 141 test
  • Ring chromosome 151 test
  • Ring chromosome 181 test
  • Ring chromosome 191 test
  • Ring chromosome 20 syndrome1 test
  • Ring chromosome 211 test
  • Ring chromosome 221 test
  • Ring chromosome 61 test
  • Ring chromosome 71 test
  • Ring chromosome 91 test
  • Roberts-SC phocomelia syndrome1 test
  • Rubinstein-Taybi syndrome 13 tests
  • Rubinstein-Taybi syndrome 23 tests
  • Rubinstein-Taybi syndrome due to 16p13.3 microdeletion1 test
  • Russell-Silver syndrome1 test
  • Saethre-Chotzen syndrome1 test
  • Schwannomatosis 12 tests
  • Seizures, benign familial infantile, 21 test
  • Seizures, benign familial infantile, 31 test
  • Seizures, benign familial infantile, 51 test
  • Severe combined immunodeficiency due to ADA deficiency3 tests
  • Severe combined immunodeficiency due to DCLRE1C deficiency3 tests
  • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation4 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive3 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative3 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive3 tests
  • Severe congenital neutropenia 4, autosomal recessive1 test
  • Severe myoclonic epilepsy in infancy1 test
  • Short stature, idiopathic, X-linked3 tests
  • Shprintzen-Goldberg syndrome9 tests
  • Shwachman-Diamond syndrome 11 test
  • Sitosterolemia1 test
  • SLC35A2-CDG1 test
  • Solid tumor5 tests
  • Spherocytosis1 test
  • Spinal muscular atrophy, type II1 test
  • Spinal muscular atrophy, type IV1 test
  • Spinal muscular atrophy-progressive myoclonic epilepsy syndrome1 test
  • Squamous cell carcinoma of the head and neck1 test
  • Stickler syndrome type 14 tests
  • Stickler syndrome type 24 tests
  • Stickler syndrome, type 44 tests
  • Stickler syndrome, type 54 tests
  • Stomatin-deficient cryohydrocytosis with neurologic defects1 test
  • Stomatocytosis1 test
  • Succinate-semialdehyde dehydrogenase deficiency1 test
  • Sucrase-isomaltase deficiency3 tests
  • Surfactant metabolism dysfunction, pulmonary, 16 tests
  • Surfactant metabolism dysfunction, pulmonary, 36 tests
  • Surfactant metabolism dysfunction, pulmonary, 46 tests
  • Surfactant metabolism dysfunction, pulmonary, 56 tests
  • T-cell acute lymphoblastic leukemia1 test
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy3 tests
  • Telangiectasia, hereditary hemorrhagic, type 26 tests
  • Telangiectasia, hereditary hemorrhagic, type 56 tests
  • Temple syndrome1 test
  • Terminal osseous dysplasia3 tests
  • Tetrasomy 18p1 test
  • Tetrasomy 9p1 test
  • Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)1 test
  • Thrombocytopenia1 test
  • Thrombocytopenia 14 tests
  • Thrombophilia due to factor V Leiden1 test
  • Thyroid cancer, nonmedullary, 21 test
  • Townes-Brocks syndrome 13 tests
  • Treacher Collins syndrome 13 tests
  • Treacher Collins syndrome 23 tests
  • Treacher Collins syndrome 33 tests
  • Trichohepatoenteric syndrome 13 tests
  • Trichohepatoenteric syndrome 23 tests
  • Trisomy 10p1 test
  • Trisomy 12p1 test
  • Trisomy 17p1 test
  • Trisomy 20p1 test
  • Trisomy 8p1 test
  • Trisomy 8q1 test
  • Tuberous sclerosis 13 tests
  • Tuberous sclerosis 23 tests
  • Tumor susceptibility linked to germline BAP1 mutations3 tests
  • Turcot syndrome7 tests
  • Type 2 diabetes mellitus3 tests
  • Uniparental disomy of 111 test
  • Uniparental disomy of 71 test
  • Uniparental disomy of chromosome 61 test
  • Unverricht-Lundborg syndrome1 test
  • Urinary bladder cancer1 test
  • Usher syndrome type 1D1 test
  • Usher syndrome type 1F1 test
  • Usher syndrome, type 1C1 test
  • Usher syndrome, type 1G1 test
  • Usher syndrome, type 1J1 test
  • Usher syndrome, type 2A1 test
  • Usher syndrome, type 2C1 test
  • Usher syndrome, type 2D1 test
  • Usher syndrome, type 3B1 test
  • Usher Syndrome, Type III1 test
  • Von Hippel-Lindau syndrome10 tests
  • Waardenburg syndrome type 14 tests
  • Waardenburg syndrome type 2A4 tests
  • Waardenburg syndrome type 2D4 tests
  • Waardenburg syndrome type 2E4 tests
  • Waardenburg syndrome type 31 test
  • Waardenburg syndrome type 4A4 tests
  • Waardenburg syndrome type 4B4 tests
  • Waardenburg syndrome type 4C4 tests
  • Warsaw breakage syndrome1 test
  • Warts, hypogammaglobulinemia, infections, and myelokathexis3 tests
  • Werdnig-Hoffmann disease1 test
  • Wilms tumor 12 tests
  • Wolfram syndrome 21 test
  • X chromosome, duplication Xq13 1 q21 11 test
  • X chromosome, monosomy Xq281 test
  • X chromosome, trisomy Xp31 test
  • X chromosome, trisomy Xpter Xq131 test
  • X chromosome, trisomy Xq251 test
  • X-linked agammaglobulinemia with growth hormone deficiency3 tests
  • X-linked mental retardation with marfanoid habitus syndrome3 tests
  • X-linked severe combined immunodeficiency3 tests
  • Xeroderma pigmentosum, complementation group b1 test
  • Xeroderma pigmentosum, group D1 test
  • Xeroderma pigmentosum, group E1 test
  • Xeroderma pigmentosum, group G1 test
  • Y chromosome deletions1 test
  • Y chromosome-related disorders1 test

List of services

  • Genetic counseling
  • DNA extraction: Order Code: DNA extraction (DNAO)
  • Tissue culture: Order Code: Grow and store
  • Whole Exome Sequencing: Order Code: Medical exome (WESPF; WESTRIO for family members), comments
  • RNA extraction: Order Code: RNA extraction (RNAO)
  • Clinical Testing/Confirmation of Mutations Identified Previously: Order Code: Sequencing known variant testing (SEQKC), comments
  • Confirmation of research findings: Order Code: Sequencing known variant testing (SEQKC)
  • Cryopreservation: Order Code: Thaw and expansion

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 39D0198678, Expiration date: 2023-02-27
  • CAP, Number: 1319201, Expiration date: 2022-04-11

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.

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