GTR Home > Laboratories > Allele Diagnostics

Allele Diagnostics

GTR Lab ID: 505455, Last updated:2021-08-25

Personnel

Conditions and tests

  • 11q partial monosomy syndrome2 tests
  • 16p11.2 deletion syndrome2 tests
  • 1q21.1 recurrent microdeletion2 tests
  • 22q13.3 deletion syndrome2 tests
  • 2p15-16.1 microdeletion syndrome2 tests
  • 3q29 microdeletion syndrome2 tests
  • 46,XX sex reversal, type 12 tests
  • 46,XY sex reversal, type 12 tests
  • 46,XY sex reversal, type 22 tests
  • 46,XY sex reversal, type 32 tests
  • 46,XY sex reversal, type 42 tests
  • 4p partial monosomy syndrome2 tests
  • 5p partial monosomy syndrome2 tests
  • 8q22.1 microdeletion syndrome2 tests
  • 9q22.3 microdeletion2 tests
  • Aarskog syndrome2 tests
  • Alagille syndrome 12 tests
  • Alport syndrome 1, X-linked recessive2 tests
  • Androgen resistance syndrome2 tests
  • Angelman syndrome2 tests
  • Aniridia 11 test
  • Anophthalmia/microphthalmia-esophageal atresia syndrome2 tests
  • Asperger syndrome1 test
  • Ataxia-oculomotor apraxia type 12 tests
  • Atrial septal defect 7 with or without atrioventricular conduction defects2 tests
  • Atrophia bulborum hereditaria2 tests
  • Autism 172 tests
  • Autism spectrum disorder1 test
  • Autosomal chromosomal disorder2 tests
  • Autosomal dominant polycystic kidney disease2 tests
  • Axenfeld-Rieger syndrome type 12 tests
  • Bannayan-Riley-Ruvalcaba syndrome2 tests
  • Beckwith-Wiedemann syndrome2 tests
  • Benign familial neonatal seizures 12 tests
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy2 tests
  • beta Thalassemia2 tests
  • Blepharophimosis, ptosis, and epicanthus inversus2 tests
  • Brain malformations and urinary tract defects2 tests
  • Branchiootorenal Syndrome 12 tests
  • Camptomelic dysplasia2 tests
  • Cat eye syndrome2 tests
  • Cerebral cavernous malformation2 tests
  • Cerebral cavernous malformations 22 tests
  • Cerebral cavernous malformations 32 tests
  • Charcot-Marie-Tooth disease, type IA2 tests
  • CHARGE association2 tests
  • Child syndrome2 tests
  • Choroideremia2 tests
  • Chromosome 15q11-q13 duplication syndrome2 tests
  • Chromosome 15q11.2 deletion syndrome2 tests
  • Chromosome 15q13.3 microdeletion syndrome2 tests
  • Chromosome 16-related alpha-thalassemia/mental retardation syndrome2 tests
  • Chromosome 16p12.1 deletion syndrome, 520kb2 tests
  • Chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-MB2 tests
  • Chromosome 16p13.3 duplication syndrome2 tests
  • Chromosome 17p13.1 deletion syndrome2 tests
  • Chromosome 17p13.3, centromeric, duplication syndrome2 tests
  • Chromosome 17q11.2 deletion syndrome, 1.4 MB2 tests
  • Chromosome 17q12 duplication syndrome2 tests
  • Chromosome 17q21.31 duplication syndrome2 tests
  • Chromosome 17q23.1-q23.2 deletion syndrome2 tests
  • Chromosome 19q13.11 deletion syndrome2 tests
  • Chromosome 1p36 deletion syndrome2 tests
  • Chromosome 1q41-q42 deletion syndrome2 tests
  • CHROMOSOME 1qter DELETION SYNDROME2 tests
  • Chromosome 22q11.2 deletion syndrome, distal2 tests
  • Chromosome 22q11.2 microduplication syndrome2 tests
  • Chromosome 2q23.1 deletion syndrome2 tests
  • Chromosome 2q32-q33 deletion syndrome2 tests
  • Chromosome 2q37 deletion syndrome2 tests
  • Chromosome 3q29 microduplication syndrome2 tests
  • Chromosome 5p13 duplication syndrome2 tests
  • Chromosome 6pter-p24 deletion syndrome2 tests
  • Chromosome 6q24-q25 deletion syndrome2 tests
  • Chromosome 7q11.23 deletion syndrome, distal, 1.2-mb2 tests
  • Chromosome Xp11.23-p11.22 duplication syndrome2 tests
  • Chromosome Xp11.3 deletion syndrome2 tests
  • Chromosome Xq28 duplication syndrome2 tests
  • Chronic granulomatous disease, X-linked2 tests
  • Cleidocranial dysostosis2 tests
  • Cognitive impairment1 test
  • Cohen syndrome2 tests
  • Complete trisomy 13 syndrome3 tests
  • Complete trisomy 18 syndrome3 tests
  • Complete trisomy 21 syndrome3 tests
  • Congenital adrenal hypoplasia, X-linked2 tests
  • Congenital aniridia1 test
  • Congenital chromosomal disease3 tests
  • Congenital diaphragmatic hernia2 tests
  • Congenital hypoplastic anemia2 tests
  • Cornelia de Lange syndrome 12 tests
  • Cowden syndrome2 tests
  • Craniofrontonasal syndrome2 tests
  • Craniosynostosis 22 tests
  • Currarino triad2 tests
  • Dandy-Walker syndrome2 tests
  • Deafness dystonia syndrome2 tests
  • Deafness, autosomal recessive 1A2 tests
  • Deafness, autosomal recessive 222 tests
  • Deficiency of glycerol kinase2 tests
  • Diaphragmatic hernia 22 tests
  • DiGeorge Syndrome2 tests
  • DiGeorge syndrome/velocardiofacial syndrome complex 22 tests
  • Double Y syndrome3 tests
  • Duane-radial ray syndrome2 tests
  • Duchenne muscular dystrophy2 tests
  • Dysequilibrium syndrome2 tests
  • Dystonia 52 tests
  • Early infantile epileptic encephalopathy 112 tests
  • Early infantile epileptic encephalopathy 22 tests
  • Early infantile epileptic encephalopathy 42 tests
  • Early infantile epileptic encephalopathy 92 tests
  • Facial dysmorphism with multiple malformations1 test
  • Familial multiple polyposis syndrome2 tests
  • Feingold syndrome2 tests
  • Focal dermal hypoplasia2 tests
  • Fragile X syndrome2 tests
  • Generalized juvenile polyposis/juvenile polyposis coli2 tests
  • GLUT1 deficiency syndrome1 test
  • GLUT1 deficiency syndrome 11 test
  • Gorlin syndrome2 tests
  • Greig cephalopolysyndactyly syndrome2 tests
  • Hereditary factor IX deficiency disease2 tests
  • Hereditary factor VIII deficiency disease2 tests
  • Hereditary hemorrhagic telangiectasia2 tests
  • Hereditary liability to pressure palsies2 tests
  • Heterotaxy, visceral, 1, X-linked2 tests
  • Hirschsprung disease 12 tests
  • Hirschsprung disease 22 tests
  • Holoprosencephaly 22 tests
  • Holoprosencephaly 32 tests
  • Holoprosencephaly 42 tests
  • Holoprosencephaly 52 tests
  • Holoprosencephaly 82 tests
  • Holoprosencephaly sequence2 tests
  • Holt-Oram syndrome2 tests
  • Homozygous 11p15-p14 deletion syndrome2 tests
  • Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive2 tests
  • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)2 tests
  • Hypohidrotic X-linked ectodermal dysplasia2 tests
  • Hypoparathyroidism, deafness, renal disease syndrome2 tests
  • Hypospadias 2, X-linked2 tests
  • Hypotonia-cystinuria syndrome2 tests
  • Infertility1 test
  • Intellectual disability, X-linked 212 tests
  • Joubert syndrome 42 tests
  • Kleefstra syndrome 12 tests
  • Klinefelter syndrome3 tests
  • Koolen-de Vries syndrome2 tests
  • Langer mesomelic dysplasia syndrome2 tests
  • Langer-Giedion syndrome2 tests
  • Laron-type isolated somatotropin defect2 tests
  • Leri-Weill dyschondrosteosis2 tests
  • Lesch-Nyhan syndrome2 tests
  • Li-Fraumeni syndrome 12 tests
  • Linear skin defects with multiple congenital anomalies 12 tests
  • Lissencephaly due to LIS1 mutation2 tests
  • Lissencephaly, X-linked2 tests
  • Lowe syndrome2 tests
  • Lymphoproliferative syndrome 1, X-linked2 tests
  • Marfan syndrome2 tests
  • McLeod neuroacanthocytosis syndrome2 tests
  • Menkes kinky-hair syndrome2 tests
  • Mental retardation 17, X-linked2 tests
  • Mental retardation 9, X-linked2 tests
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia2 tests
  • Mental retardation with language impairment and with or without autistic features2 tests
  • Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance2 tests
  • Mental retardation, autosomal dominant 12 tests
  • Mental retardation, autosomal dominant 52 tests
  • Mental retardation, autosomal recessive 62 tests
  • Mental retardation, autosomal recessive 72 tests
  • Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations2 tests
  • Mental retardation, X-linked, syndromic, wu type2 tests
  • Mesomelic dysplasia, Kantaputra type2 tests
  • Metachromatic leukodystrophy2 tests
  • Miller Dieker syndrome2 tests
  • Mowat-Wilson syndrome2 tests
  • Multiple congenital anomalies1 test
  • Myoclonic dystonia 112 tests
  • Nail-patella syndrome2 tests
  • Nephronophthisis 12 tests
  • Nephropathic cystinosis2 tests
  • Neurofibromatosis, type 22 tests
  • Oculofaciocardiodental syndrome2 tests
  • Opitz GBBB syndrome, type I2 tests
  • Ornithine carbamoyltransferase deficiency2 tests
  • Osteopathia striata with cranial sclerosis2 tests
  • Otodental syndrome2 tests
  • Pallister-Killian syndrome2 tests
  • Panhypopituitarism, X-linked2 tests
  • Paragangliomas 12 tests
  • Paragangliomas 42 tests
  • Paris-Trousseau thrombocytopenia2 tests
  • Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease2 tests
  • Peutz-Jeghers syndrome2 tests
  • Pitt-Hopkins syndrome2 tests
  • Pitt-Hopkins-like syndrome 12 tests
  • Pitt-Hopkins-like syndrome 22 tests
  • Polymicrogyria, bilateral frontoparietal2 tests
  • Potocki-Lupski syndrome2 tests
  • Potocki-Shaffer syndrome2 tests
  • Prader-Willi syndrome2 tests
  • Prader-Willi-like syndrome associated with chromosome 62 tests
  • Pregnancy loss, recurrent, susceptibility to, 11 test
  • Radial aplasia-thrombocytopenia syndrome2 tests
  • Renal cysts and diabetes syndrome2 tests
  • Retinoblastoma2 tests
  • Rett syndrome2 tests
  • Rett syndrome, congenital variant2 tests
  • Rubinstein-Taybi syndrome2 tests
  • Rubinstein-Taybi syndrome due to 16p13.3 microdeletion2 tests
  • Saethre-Chotzen syndrome2 tests
  • Severe myoclonic epilepsy in infancy2 tests
  • Severe X-linked myotubular myopathy2 tests
  • Short stature, idiopathic, X-linked2 tests
  • Short stature-pituitary and cerebellar defects-small sella turcica syndrome2 tests
  • Simpson-Golabi-Behmel syndrome type 12 tests
  • Smith-Magenis syndrome2 tests
  • Sotos syndrome2 tests
  • Speech-language disorder 12 tests
  • Split hand-foot malformation 32 tests
  • Split-hand/foot malformation 12 tests
  • Split-hand/foot malformation 52 tests
  • Spontaneous abortion1 test
  • Sudanophilic leukodystrophy2 tests
  • Syndactyly-telecanthus-anogenital and renal malformations syndrome2 tests
  • Syndromic X-linked intellectual disability Lubs type2 tests
  • Syndromic X-linked intellectual disability Siderius type2 tests
  • Synpolydactyly 12 tests
  • Telangiectasia, hereditary hemorrhagic, type 22 tests
  • Townes syndrome1 test
  • Townes-Brocks syndrome 11 test
  • Trichorhinophalangeal dysplasia type I2 tests
  • Triploidy1 test
  • Tuberous sclerosis 12 tests
  • Tuberous sclerosis 22 tests
  • Turner syndrome3 tests
  • Tyrosinase-positive oculocutaneous albinism2 tests
  • Ulnar-mammary syndrome2 tests
  • Usher syndrome, type 2C2 tests
  • van der Woude syndrome 12 tests
  • Velocardiofacial syndrome2 tests
  • Von Hippel-Lindau syndrome2 tests
  • Waardenburg syndrome type 12 tests
  • Waardenburg syndrome type 2A2 tests
  • Waardenburg syndrome type 2E2 tests
  • Waardenburg syndrome type 4A2 tests
  • Waardenburg syndrome type 4C2 tests
  • Walker-Warburg congenital muscular dystrophy2 tests
  • Williams syndrome2 tests
  • Williams-Beuren region duplication syndrome2 tests
  • Wilms tumor 12 tests
  • Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome2 tests
  • Witteveen-kolk syndrome2 tests
  • X-linked agammaglobulinemia2 tests
  • X-linked chondrodysplasia punctata 12 tests
  • X-linked diffuse leiomyomatosis-Alport syndrome2 tests
  • X-linked ichthyosis with steryl-sulfatase deficiency2 tests

List of services

  • This lab has no services.

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 50D2086351, Expiration date: 2023-06-30
  • CAP, Number: 9018482, Expiration date: 2021-04-21

Licenses

  • CA - California Department of Public Health CDPH, Number: CDS 00800591, Expiration date: 2022-05-03
  • PA - Pennsylvania Department of Health PADOH, Number: 034407, Expiration date: 2022-08-15
  • WA - Washington State Department of Health DOH, Number: 50D2086351, Expiration date: 2023-06-30

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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