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GTR Home > Laboratories > Allele Diagnostics

Allele Diagnostics

GTR Lab ID: 505455, Last updated:2023-06-01

Personnel

  • Director: Blake Atwood, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
    Phone: 844-255-3532
    Fax: 509-232-5779
    Email: info@allelediagnostics.com
  • Director: Beth Torchia, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
    Phone: 844-255-3532
    Fax: 509-232-5779
    Email: info@allelediagnostics.com
  • Director: Ferrin Wheeler, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
    Phone: 844-255-3532
    Fax: 509-232-5779
    Email: info@allelediagnostics.com
  • Annie Morton, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
    Phone: 844-255-3532
    Fax: 509-232-5779
    Email: info@allelediagnostics.com
  • Taylor Durant, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
    Phone: 844-255-3532
    Fax: 509-232-5779
    Email: info@allelediagnostics.com

Conditions and tests

  • 11p partial monosomy syndrome2 tests
  • 11q partial monosomy syndrome2 tests
  • 15q11q13 microduplication syndrome2 tests
  • 46,XX sex reversal 12 tests
  • 46,XY sex reversal 12 tests
  • 46,XY sex reversal 22 tests
  • 46,XY sex reversal 32 tests
  • 46,XY sex reversal 42 tests
  • 4p partial monosomy syndrome2 tests
  • 5p partial monosomy syndrome2 tests
  • 7q11.23 microduplication syndrome2 tests
  • 8q22.1 microdeletion syndrome2 tests
  • Aarskog syndrome2 tests
  • Alagille syndrome due to a JAG1 point mutation2 tests
  • Alpha thalassemia-intellectual disability syndrome type 12 tests
  • Androgen resistance syndrome2 tests
  • Angelman syndrome2 tests
  • Aniridia 11 test
  • Anophthalmia/microphthalmia-esophageal atresia syndrome2 tests
  • Asperger syndrome, susceptibility to1 test
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia2 tests
  • Atrial septal defect 72 tests
  • Atrophia bulborum hereditaria2 tests
  • Autism spectrum disorder1 test
  • Autism, susceptibility to, 172 tests
  • Autosomal chromosomal disorder2 tests
  • Autosomal dominant polycystic kidney disease2 tests
  • Autosomal recessive nonsyndromic hearing loss 1A2 tests
  • Autosomal recessive nonsyndromic hearing loss 222 tests
  • Axenfeld-Rieger syndrome type 12 tests
  • Bannayan-Riley-Ruvalcaba syndrome2 tests
  • Beckwith-Wiedemann syndrome2 tests
  • beta Thalassemia2 tests
  • Bilateral frontoparietal polymicrogyria2 tests
  • Blepharophimosis, ptosis, and epicanthus inversus syndrome2 tests
  • Branchiootorenal syndrome 12 tests
  • Camptomelic dysplasia2 tests
  • Cat eye syndrome2 tests
  • Cerebral cavernous malformation2 tests
  • Cerebral cavernous malformation 22 tests
  • Cerebral cavernous malformation 32 tests
  • Charcot-Marie-Tooth disease, type IA2 tests
  • CHARGE association2 tests
  • Child syndrome2 tests
  • Childhood apraxia of speech2 tests
  • Choroideremia2 tests
  • Chromosome 15q11.2 deletion syndrome2 tests
  • Chromosome 15q13.3 microdeletion syndrome2 tests
  • Chromosome 16p12.1 deletion syndrome, 520kb2 tests
  • Chromosome 16p12.2-p11.2 deletion syndrome2 tests
  • Chromosome 16p13.3 duplication syndrome2 tests
  • Chromosome 17p13.1 deletion syndrome2 tests
  • Chromosome 17p13.3 duplication syndrome2 tests
  • Chromosome 17q11.2 deletion syndrome, 1.4Mb2 tests
  • Chromosome 17q12 duplication syndrome2 tests
  • Chromosome 17q21.31 duplication syndrome2 tests
  • Chromosome 17q23.1-q23.2 deletion syndrome2 tests
  • Chromosome 19q13.11 deletion syndrome, distal2 tests
  • Chromosome 1p32-p31 deletion syndrome2 tests
  • Chromosome 1p36 deletion syndrome2 tests
  • Chromosome 1q21.1 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 2p16.1-p15 deletion syndrome2 tests
  • Chromosome 2q23.1 deletion syndrome2 tests
  • Chromosome 2q32-q33 deletion syndrome2 tests
  • Chromosome 2q37 deletion syndrome2 tests
  • Chromosome 3q29 microdeletion 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 Xp11.22 duplication syndrome2 tests
  • Chromosome Xp11.23-p11.22 duplication syndrome2 tests
  • Chromosome Xq28 duplication syndrome2 tests
  • Cleidocranial dysostosis2 tests
  • Cognitive impairment1 test
  • Cohen syndrome2 tests
  • Combined immunodeficiency due to DOCK8 deficiency2 tests
  • Complete trisomy 13 syndrome3 tests
  • Complete trisomy 21 syndrome3 tests
  • Congenital adrenal hypoplasia, X-linked2 tests
  • Congenital aniridia1 test
  • Congenital chromosomal disease3 tests
  • Congenital diaphragmatic hernia2 tests
  • Cornelia de Lange syndrome 12 tests
  • Cortical dysplasia-focal epilepsy syndrome2 tests
  • Cowden syndrome2 tests
  • Craniofrontonasal syndrome2 tests
  • Craniosynostosis 22 tests
  • Currarino triad2 tests
  • Dandy-Walker syndrome2 tests
  • Deafness dystonia syndrome2 tests
  • Developmental and epileptic encephalopathy, 112 tests
  • Developmental and epileptic encephalopathy, 22 tests
  • Developmental and epileptic encephalopathy, 42 tests
  • Developmental and epileptic encephalopathy, 92 tests
  • Diamond-Blackfan anemia2 tests
  • Diaphragmatic hernia 22 tests
  • DiGeorge syndrome2 tests
  • Distal 7q11.23 microdeletion syndrome2 tests
  • Distal monosomy 10p2 tests
  • Double Y syndrome3 tests
  • Duane-radial ray syndrome2 tests
  • Duchenne muscular dystrophy2 tests
  • Dysequilibrium syndrome2 tests
  • Dystonia 52 tests
  • Emery-Dreifuss muscular dystrophy 2, autosomal dominant2 tests
  • Encephalopathy due to GLUT1 deficiency1 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
  • Gorlin syndrome2 tests
  • Granulomatous disease, chronic, X-linked2 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, susceptibility to, 12 tests
  • Hirschsprung disease, susceptibility to, 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
  • Hypogonadotropic hypogonadism 1 with or without anosmia2 tests
  • Hypohidrotic X-linked ectodermal dysplasia2 tests
  • Hypoparathyroidism, deafness, renal disease syndrome2 tests
  • Hypospadias 2, X-linked2 tests
  • Hypotonia-cystinuria syndrome2 tests
  • Inborn glycerol kinase deficiency2 tests
  • Infertility disorder1 test
  • Intellectual disability, autosomal dominant 12 tests
  • Intellectual disability, autosomal dominant 202 tests
  • Intellectual disability, autosomal dominant 52 tests
  • Intellectual disability, autosomal recessive 62 tests
  • Intellectual disability, autosomal recessive 72 tests
  • Intellectual disability, X-linked 212 tests
  • Intellectual disability, X-linked 92 tests
  • Intellectual disability-severe speech delay-mild dysmorphism syndrome2 tests
  • Joubert syndrome with renal defect2 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 type 1 due to doublecortin gene mutation2 tests
  • Lowe syndrome2 tests
  • Marfan syndrome2 tests
  • McLeod neuroacanthocytosis syndrome2 tests
  • Menkes kinky-hair syndrome2 tests
  • Mesomelic dysplasia, Kantaputra type2 tests
  • Metachromatic leukodystrophy2 tests
  • Miller Dieker syndrome2 tests
  • Miscarriage1 test
  • Monosomy 9q22.32 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
  • 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
  • PCWH syndrome2 tests
  • Pelizaeus-Merzbacher disease2 tests
  • Peutz-Jeghers syndrome2 tests
  • Phelan-McDermid syndrome2 tests
  • Pitt-Hopkins syndrome2 tests
  • Pitt-Hopkins-like syndrome 22 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
  • Proximal 16p11.2 microdeletion syndrome2 tests
  • 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
  • Seizures, benign familial neonatal, 12 tests
  • Severe myoclonic epilepsy in infancy2 tests
  • Severe X-linked myotubular myopathy2 tests
  • Short stature-pituitary and cerebellar defects-small sella turcica syndrome2 tests
  • SHOX-related short stature2 tests
  • Simpson-Golabi-Behmel syndrome type 12 tests
  • SIN3A-related intellectual disability syndrome due to a point mutation2 tests
  • Smith-Magenis syndrome2 tests
  • Sotos syndrome2 tests
  • Split hand-foot malformation 12 tests
  • Split hand-foot malformation 32 tests
  • Split hand-foot malformation 52 tests
  • Syndactyly-telecanthus-anogenital and renal malformations syndrome2 tests
  • Syndromic X-linked intellectual disability 942 tests
  • Syndromic X-linked intellectual disability Lubs type2 tests
  • Syndromic X-linked intellectual disability Najm type2 tests
  • Syndromic X-linked intellectual disability Siderius type2 tests
  • Synpolydactyly type 12 tests
  • Telangiectasia, hereditary hemorrhagic, type 22 tests
  • Thakker-Donnai syndrome1 test
  • Townes syndrome1 test
  • Townes-Brocks syndrome 11 test
  • Trichorhinophalangeal dysplasia type I2 tests
  • Triploidy1 test
  • Trisomy 183 tests
  • 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
  • Wilms tumor 12 tests
  • X-linked agammaglobulinemia2 tests
  • X-linked Alport syndrome2 tests
  • X-linked chondrodysplasia punctata 12 tests
  • X-linked diffuse leiomyomatosis-Alport syndrome2 tests
  • X-linked ichthyosis with steryl-sulfatase deficiency2 tests
  • X-linked intellectual disability-cerebellar hypoplasia syndrome2 tests
  • X-linked intellectual disability-retinitis pigmentosa syndrome2 tests
  • X-linked lymphoproliferative disease due to SH2D1A deficiency2 tests
  • X-linked Opitz G/BBB syndrome2 tests

List of services

  • This lab has no services.

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 50D2086351, Expiration date: 2025-06-30
  • CAP, Number: 9018482, Expiration date: 2025-04-21

Licenses

  • CA - California Department of Public Health CDPH, Number: CDS 00800591, Expiration date: 2024-05-03
  • PA - Pennsylvania Department of Health PADOH, Number: 034407, Expiration date: 2023-08-15
  • WA - Washington State Department of Health DOH, Number: 50D2086351, Expiration date: 2023-06-30

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