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Blueprint Genetics

GTR Lab ID: 500188, Last updated:2021-02-02
Annual Review past due read more

Personnel

  • Director: Juha Koskenvuo, PhD, MD, Lab Director
  • Tero-Pekka Alastalo, PhD, MD, President, Chief Medical Officer
  • Samuel Myllykangas, PhD, Scientific Director

Conditions and tests

  • 3-M syndrome2 tests
  • Abnormality of neuronal migration1 test
  • Achromatopsia1 test
  • Acromesomelic dysplasia 1, Maroteaux type1 test
  • Acromesomelic dysplasia 2C, Hunter-Thompson type1 test
  • Acute pancreatitis1 test
  • Adams-Oliver syndrome2 tests
  • Adenine phosphoribosyltransferase deficiency1 test
  • Adenylosuccinate lyase deficiency1 test
  • Aganglionic megacolon2 tests
  • AICA-ribosiduria1 test
  • Aicardi Goutieres syndrome2 tests
  • Alpha-1-antitrypsin deficiency2 tests
  • Alport syndrome3 tests
  • Alstrom syndrome1 test
  • Alternating hemiplegia of childhood1 test
  • Alveolar capillary dysplasia with pulmonary venous misalignment1 test
  • Amelogenesis imperfecta hypomaturation type 2A21 test
  • Amelogenesis imperfecta hypomaturation type 2A31 test
  • Amelogenesis imperfecta hypomaturation type 2A51 test
  • Amelogenesis imperfecta type 1E1 test
  • Amelogenesis imperfecta type 1H1 test
  • Amelogenesis imperfecta type 2A11 test
  • Amelogenesis imperfecta, hypomaturation type, IIa61 test
  • Amyotrophic lateral sclerosis1 test
  • Androgen resistance syndrome1 test
  • Angiokeratoma corporis diffusum1 test
  • Anophthalmia1 test
  • Anterior segment anomalies with or without cataract1 test
  • Aortic aneurysm1 test
  • Arginase deficiency1 test
  • Arrhythmogenic right ventricular cardiomyopathy4 tests
  • Arterial tortuosity1 test
  • Arterial tortuosity syndrome1 test
  • Arteriohepatic dysplasia2 tests
  • Arthrogryposis, distal, type 1A1 test
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia1 test
  • Ataxia-telangiectasia syndrome1 test
  • Atrial fibrillation1 test
  • Atrial septal defect1 test
  • Atypical hemolytic-uremic syndrome1 test
  • Autism spectrum disorder1 test
  • Autosomal dominant polycystic kidney disease3 tests
  • Autosomal dominant polycystic liver disease1 test
  • Autosomal dominant Robinow syndrome 11 test
  • Autosomal recessive polycystic kidney disease2 tests
  • Autosomal recessive spinocerebellar ataxia 101 test
  • Bardet-Biedl syndrome3 tests
  • Bartter syndrome2 tests
  • Bernard Soulier syndrome2 tests
  • Bethlem myopathy1 test
  • Bietti crystalline corneoretinal dystrophy1 test
  • Bilateral frontoparietal polymicrogyria1 test
  • Biotinidase deficiency1 test
  • Bloom syndrome2 tests
  • Brachydactyly1 test
  • Branchiootorenal syndrome 13 tests
  • Brugada syndrome3 tests
  • Carcinoma of pancreas1 test
  • Cardiac arrhythmia1 test
  • Cardio-facio-cutaneous syndrome1 test
  • Cardiomyopathy1 test
  • Carney complex1 test
  • Cataract1 test
  • Catecholaminergic polymorphic ventricular tachycardia3 tests
  • Cerebellar ataxia1 test
  • Cerebral cavernous malformation2 tests
  • Cerebral creatine deficiency syndrome2 tests
  • Charcot-Marie-Tooth disease1 test
  • Cholestasis, intrahepatic, of pregnancy, 31 test
  • Cholesteryl ester storage disease1 test
  • Chondrodysplasia punctata1 test
  • Choroideremia1 test
  • Chronic granulomatous disease1 test
  • Chronic infantile neurological, cutaneous and articular syndrome1 test
  • Chronic pancreatitis1 test
  • Ch├ędiak-Higashi syndrome1 test
  • Ciliary dyskinesia5 tests
  • Citrullinemia type II1 test
  • Cleft lip/palate1 test
  • Cobalamin deficiency1 test
  • Cockayne syndrome1 test
  • Coenzyme Q10 deficiency, primary, 11 test
  • Cohen syndrome1 test
  • Colorectal cancer1 test
  • Cone/cone-rod dystrophy1 test
  • Congenital adrenal hyperplasia2 tests
  • Congenital central hypoventilation1 test
  • Congenital contractural arachnodactyly1 test
  • Congenital defect of folate absorption1 test
  • Congenital diarrhea 5 with tufting enteropathy1 test
  • Congenital disorder of deglycosylation1 test
  • Congenital disorder of glycosylation3 tests
  • Congenital generalized lipodystrophy3 tests
  • Congenital glucose-galactose malabsorption1 test
  • Congenital hepatic fibrosis1 test
  • Congenital hypoplastic anemia3 tests
  • Congenital hypothyroidism1 test
  • Congenital ichthyosiform erythroderma1 test
  • Congenital lactase deficiency1 test
  • Congenital microvillous atrophy1 test
  • Congenital muscular dystrophy1 test
  • Congenital myasthenic syndrome1 test
  • Congenital neutropenia1 test
  • Congenital secretory diarrhea, chloride type1 test
  • Congenital secretory sodium diarrhea 31 test
  • Congenital stationary night blindness1 test
  • Corneal dystrophy1 test
  • Costello syndrome1 test
  • Cranioectodermal dysplasia1 test
  • Craniofacial dysostosis1 test
  • Craniometadiaphyseal dysplasia wormian bone type1 test
  • Craniosynostosis syndrome1 test
  • Crigler-Najjar syndrome type 11 test
  • Crigler-Najjar syndrome, type II1 test
  • Cutis laxa2 tests
  • Cutis laxa, autosomal dominant 11 test
  • Cyclical neutropenia1 test
  • Cystic fibrosis4 tests
  • Cystinuria3 tests
  • De Lange syndrome2 tests
  • Deficiency of beta-ureidopropionase1 test
  • Deficiency of galactokinase2 tests
  • Dementia1 test
  • Dent disease1 test
  • Dentinogenesis imperfecta type 21 test
  • Diarrhea with Microvillus Atrophy1 test
  • Disorder of fatty acid metabolism1 test
  • Disorder of organic acid metabolism2 tests
  • Disorder of the urea cycle metabolism2 tests
  • Distal myopathy1 test
  • Dubin-Johnson syndrome1 test
  • Dyskeratosis congenita1 test
  • Dystonic disorder1 test
  • Ebstein anomaly1 test
  • Ectopia lentis1 test
  • Ehlers-Danlos syndrome2 tests
  • Elliptocytosis1 test
  • Ellis-van Creveld syndrome1 test
  • Emery-Dreifuss muscular dystrophy1 test
  • Epidermolysis bullosa1 test
  • Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders1 test
  • Epileptic encephalopathy1 test
  • Familial adenomatous polyposis 11 test
  • Familial amyloid nephropathy with urticaria AND deafness1 test
  • Familial aplasia of the vermis3 tests
  • Familial cancer of breast1 test
  • Familial cold autoinflammatory syndrome 21 test
  • Familial cold autoinflammatory syndrome 31 test
  • Familial hemiplegic migraine1 test
  • Familial hemophagocytic lymphohistiocytosis1 test
  • Familial hyperinsulinism1 test
  • Familial hypokalemia-hypomagnesemia1 test
  • Familial Mediterranean fever1 test
  • Familial medullary thyroid carcinoma1 test
  • Familial pancreatic carcinoma1 test
  • Familial partial lipodystrophy2 tests
  • Familial thoracic aortic aneurysm and aortic dissection1 test
  • Fanconi anemia4 tests
  • Female pseudohermaphroditism1 test
  • Fluorouracil response1 test
  • Focal epilepsy2 tests
  • Frontotemporal dementia1 test
  • Galactose intolerance2 tests
  • Ganglioneuroma1 test
  • Gaucher disease1 test
  • Generalized epilepsy2 tests
  • Generalized juvenile polyposis/juvenile polyposis coli1 test
  • Genetic predisposition4 tests
  • Gilbert syndrome1 test
  • Glanzmann thrombasthenia2 tests
  • Glaucoma1 test
  • Glomuvenous malformation1 test
  • Glucocorticoid deficiency 11 test
  • Glycogen storage disease4 tests
  • Glycogen storage disease, type II1 test
  • Gorlin syndrome1 test
  • Gray platelet syndrome1 test
  • Grebe syndrome1 test
  • Griscelli syndrome1 test
  • Growth abnormality1 test
  • Haddad syndrome1 test
  • Hemochromatosis type 11 test
  • Hemochromatosis type 2A1 test
  • Hemochromatosis type 2B1 test
  • Hemochromatosis type 31 test
  • Hemochromatosis type 41 test
  • Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency1 test
  • Hemolytic-uremic syndrome1 test
  • Hemophilia1 test
  • Hereditary acrodermatitis enteropathica1 test
  • Hereditary breast ovarian cancer syndrome1 test
  • Hereditary cancer-predisposing syndrome1 test
  • Hereditary cryohydrocytosis with reduced stomatin1 test
  • Hereditary diffuse gastric adenocarcinoma1 test
  • Hereditary disease4 tests
  • Hereditary episodic ataxia1 test
  • Hereditary factor IX deficiency disease1 test
  • Hereditary factor VIII deficiency disease1 test
  • Hereditary fructosuria2 tests
  • Hereditary hemochromatosis2 tests
  • Hereditary hemorrhagic telangiectasia type 31 test
  • Hereditary palmoplantar keratoderma1 test
  • Hereditary pheochromocytoma-paraganglioma3 tests
  • Hereditary pulmonary alveolar proteinosis1 test
  • Hereditary spherocytosis1 test
  • Hereditary xanthinuria type 11 test
  • Hermansky-Pudlak syndrome4 tests
  • Hidrotic ectodermal dysplasia syndrome1 test
  • Holoprosencephaly sequence1 test
  • Holt-Oram syndrome1 test
  • Homocystinuria2 tests
  • Hoyeraal-Hreidarsson syndrome1 test
  • Hurler syndrome1 test
  • Hutchinson-Gilford syndrome1 test
  • Hypercholesterolemia, familial, 12 tests
  • Hyperimmunoglobulin D with periodic fever1 test
  • Hyperoxaluria2 tests
  • Hyperparathyroidism1 test
  • Hyperphenylalaninemia1 test
  • Hyperphenylalaninemia due to tetrahydrobiopterin deficiency1 test
  • Hypertrophic cardiomyopathy3 tests
  • Hypogonadism with anosmia1 test
  • Hypohidrotic ectodermal dysplasia1 test
  • Hypomagnesemia, seizures, and intellectual disability 11 test
  • Hypophosphatasia1 test
  • Hypophosphatemic rickets2 tests
  • Hypoplastic left heart syndrome 11 test
  • Infantile onset spinocerebellar ataxia1 test
  • Infertility1 test
  • Inherited bone marrow failure syndrome2 tests
  • Interstitial lung disease 22 tests
  • Intestinal atresia1 test
  • Intestinal hypomagnesemia 11 test
  • Jawad syndrome1 test
  • Jeune thoracic dystrophy1 test
  • Junctional epidermolysis bullosa, non-Herlitz type1 test
  • Juvenile hemochromatosis1 test
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome1 test
  • Juvenile retinoschisis1 test
  • Kabuki syndrome1 test
  • Lafora disease1 test
  • Lamellar ichthyosis1 test
  • Leber congenital amaurosis1 test
  • Left ventricular noncompaction3 tests
  • Lesch-Nyhan syndrome1 test
  • Leukemia2 tests
  • Leukodystrophy1 test
  • Leukoencephalopathy1 test
  • Li-Fraumeni syndrome3 tests
  • Liddle syndrome 11 test
  • Limb-girdle muscular dystrophy1 test
  • Lissencephaly1 test
  • Loeys-Dietz syndrome1 test
  • Long QT syndrome3 tests
  • Lung carcinoma1 test
  • Lymphangiomyomatosis1 test
  • Lymphatic malformation1 test
  • Lymphoproliferative disorder1 test
  • Lynch syndrome2 tests
  • Macrocephaly1 test
  • Macular dystrophy1 test
  • Male pseudohermaphroditism1 test
  • Maple syrup urine disease1 test
  • Marfan syndrome1 test
  • Maturity onset diabetes mellitus in young1 test
  • Meckel-Gruber syndrome2 tests
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
  • Medulloblastoma1 test
  • Meier-Gorlin syndrome3 tests
  • Melanoma1 test
  • Metabolic myopathy1 test
  • Metaphyseal anadysplasia 21 test
  • Metaphyseal chondrodysplasia1 test
  • Metaphyseal chondrodysplasia, Schmid type1 test
  • Methylmalonic acidemia1 test
  • Microcephalic osteodysplastic primordial dwarfism type II1 test
  • Microcephalic osteodysplastic primordial dwarfism, type 31 test
  • Microcephaly1 test
  • Microcephaly, normal intelligence and immunodeficiency1 test
  • Microcephaly-capillary malformation syndrome1 test
  • Microphthalmia1 test
  • Miller syndrome1 test
  • Mitochondrial DNA depletion syndrome 11 test
  • Mitochondrial DNA depletion syndrome 111 test
  • Mitochondrial DNA depletion syndrome 131 test
  • Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)1 test
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)1 test
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)1 test
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1 test
  • Mitochondrial DNA depletion syndrome, myopathic form1 test
  • Mucolipidosis type II1 test
  • Mucolipidosis type IV1 test
  • Mucopolysaccharidosis1 test
  • Multiple acyl-CoA dehydrogenase deficiency1 test
  • Multiple congenital exostosis1 test
  • Multiple cutaneous leiomyomas1 test
  • Multiple endocrine neoplasia3 tests
  • Multiple fibrofolliculomas3 tests
  • Muscle AMP deaminase deficiency1 test
  • Muscular dystrophy1 test
  • Nemaline myopathy1 test
  • Neonatal diabetes mellitus1 test
  • Neoplasm of the skin1 test
  • Nephrogenic diabetes insipidus1 test
  • Nephrolithiasis/nephrocalcinosis1 test
  • Nephronophthisis1 test
  • Nephrotic syndrome1 test
  • Neuroblastoma1 test
  • Neurofibroma1 test
  • Neurofibromatosis, type 11 test
  • Neurofibromatosis, type 21 test
  • Neuronal ceroid lipofuscinosis1 test
  • Niemann-Pick disease, type A2 tests
  • Niemann-Pick disease, type B2 tests
  • Niemann-Pick disease, type C2 tests
  • Niemann-Pick disease, type D1 test
  • Non-ketotic hyperglycinemia2 tests
  • Non-syndromic X-linked intellectual disability1 test
  • Nonsyndromic genetic hearing loss2 tests
  • Noonan syndrome3 tests
  • Noonan syndrome with multiple lentigines1 test
  • Nystagmus1 test
  • Obesity1 test
  • Oculocutaneous albinism1 test
  • Olmsted syndrome 11 test
  • Optic atrophy2 tests
  • Ornithine carbamoyltransferase deficiency1 test
  • Oroticaciduria1 test
  • Osteodysplastic primordial dwarfism, type 11 test
  • Osteogenesis imperfecta1 test
  • Osteopetrosis1 test
  • Pachyonychia congenita syndrome2 tests
  • Palmoplantar keratoderma, punctate type 1A1 test
  • Papillary renal cell carcinoma type 11 test
  • Parkinson disease1 test
  • Paroxysmal atrial fibrillation1 test
  • Pendred syndrome3 tests
  • Periodic paralysis1 test
  • Permanent atrial fibrillation1 test
  • Peroxisome biogenesis disorder 1A (Zellweger)2 tests
  • Peroxisome biogenesis disorder 2B1 test
  • Peroxisome biogenesis disorder type 3B1 test
  • Peutz-Jeghers syndrome2 tests
  • Phenylketonuria2 tests
  • POLG-related disorders1 test
  • Pontoneocerebellar hypoplasia1 test
  • Porphyria1 test
  • Premature ovarian failure1 test
  • Primary dilated cardiomyopathy3 tests
  • Primary hypomagnesemia1 test
  • Progressive external ophthalmoplegia1 test
  • Progressive familial intrahepatic cholestasis type 11 test
  • Progressive myoclonic epilepsy2 tests
  • Progressive sclerosing poliodystrophy1 test
  • Prolactin-producing pituitary gland adenoma1 test
  • Propionic acidemia1 test
  • Pseudo-Hurler polydystrophy1 test
  • Pseudohypoaldosteronism1 test
  • Pulmonary artery stenosis1 test
  • Pulmonary venoocclusive disease 1, autosomal dominant1 test
  • Purine-nucleoside phosphorylase deficiency1 test
  • Pyle metaphyseal dysplasia1 test
  • Pyridoxine-dependent epilepsy1 test
  • Renal cyst4 tests
  • Renal dysplasia and retinal aplasia2 tests
  • Renal hypomagnesemia 21 test
  • Renal hypomagnesemia 41 test
  • Renal hypomagnesemia 5 with ocular involvement1 test
  • Renal hypomagnesemia 61 test
  • Renal tubular acidosis1 test
  • Renotubular dysgenesis1 test
  • Respiratory distress syndrome in premature infants1 test
  • Restrictive cardiomyopathy3 tests
  • Retinal dystrophy1 test
  • Retinitis pigmentosa1 test
  • Retinitis pigmentosa-deafness syndrome3 tests
  • Retinoblastoma2 tests
  • Revesz syndrome1 test
  • Rhabdomyolysis1 test
  • Rhizomelic chondrodysplasia punctata1 test
  • Rothmund-Thomson syndrome1 test
  • Seckel syndrome3 tests
  • Sensorineural hearing impairment2 tests
  • Septo-optic dysplasia sequence1 test
  • Severe combined immunodeficiency disease2 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency1 test
  • Severe short stature1 test
  • Short QT syndrome3 tests
  • Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome1 test
  • Shprintzen-Goldberg syndrome1 test
  • Sialidosis type 21 test
  • Sialuria1 test
  • Simpson-Golabi-Behmel syndrome type 11 test
  • Sitosterolemia1 test
  • Skeletal dysplasia3 tests
  • Spastic paraplegia1 test
  • Spinal muscular atrophy1 test
  • Split hand-foot malformation 1 with sensorineural hearing loss1 test
  • Spondylometaphyseal dysplasia, Kozlowski type1 test
  • Stickler syndrome3 tests
  • Stomatocytosis1 test
  • Succinate-semialdehyde dehydrogenase deficiency1 test
  • Sucrase-isomaltase deficiency1 test
  • Sudden cardiac death2 tests
  • Supravalvar aortic stenosis1 test
  • Syndactyly1 test
  • Telangiectasia, hereditary hemorrhagic, type 12 tests
  • Telangiectasia, hereditary hemorrhagic, type 21 test
  • Tetralogy of Fallot1 test
  • Thiopurine methyltransferase deficiency1 test
  • Thrombocytopenia1 test
  • Thyroid hormone resistance syndrome1 test
  • TNF receptor-associated periodic fever syndrome (TRAPS)1 test
  • Trichohepatoenteric syndrome1 test
  • Tuberous sclerosis syndrome4 tests
  • Tyrosinemia type I2 tests
  • Tyrosinemia type II1 test
  • Tyrosinemia type III1 test
  • UDPglucose-4-epimerase deficiency2 tests
  • Ullrich congenital muscular dystrophy1 test
  • Ventricular septal defect1 test
  • Visceral heterotaxy1 test
  • Vitreoretinopathy1 test
  • Von Hippel-Lindau syndrome4 tests
  • von Willebrand disease type 11 test
  • von Willebrand disorder1 test
  • Waardenburg syndrome4 tests
  • Weill-Marchesani syndrome1 test
  • Werner syndrome1 test
  • Wilms tumor 11 test
  • Wilson disease1 test
  • Wiskott-Aldrich syndrome1 test
  • Wolman disease1 test
  • Xanthinuria type II1 test
  • Xeroderma pigmentosum1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Sequence Analysis

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 99D2092375, Expiration date: 2021-04-20
  • CAP, Number: 9257331, Expiration date: 2020-04-22
  • ISO15189, Number: T292, Expiration date: 2024-02-02

Licenses

  • CA - California Department of Public Health CDPH, Number: CDS00800637, Expiration date: 2021-04-03
  • MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 2409, Effective date: 2019-12-08 Non-expiring
  • PA - Pennsylvania Department of Health PADOH, Number: 34897, Expiration date: 2021-08-15
  • RI - State of Rhode Island Department of Health RIDOH, Number: LCO01312, Expiration date: 2022-12-30

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.