Blueprint Genetics

Personnel

Director: Juha Koskenvuo, PhD, MD, Lab Director

Conditions and tests

436 conditions/phenotypes with 228 tests
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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
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
Birt-Hogg-Dube syndrome3 tests
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
Chédiak-Higashi syndrome1 test
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-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 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
Craniometadiaphyseal dysplasia wormian bone type1 test
Craniosynostosis syndrome1 test
Crigler-Najjar syndrome type 11 test
Crigler-Najjar syndrome, type II1 test
Crouzon syndrome1 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
Diamond-Blackfan anemia3 tests
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
Fabry disease1 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
Galactosemia2 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 leiomyomatosis and renal cell cancer1 test
Hereditary palmoplantar keratoderma1 test
Hereditary pheochromocytoma-paraganglioma3 tests
Hereditary pulmonary alveolar proteinosis1 test
Hereditary spherocytosis1 test
Hereditary von Willebrand disease1 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
Infertility disorder1 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 endocrine neoplasia3 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 disorder1 test
Pontoneocerebellar hypoplasia1 test
Porphyria1 test
Premature ovarian failure1 test
Primary ciliary dyskinesia5 tests
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 11 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
Renal tubular 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 loss disorder2 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 S-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
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

CLIAHelpCertification number assigned by the Clinical Laboratory Improvement Amendments (CLIA) program to the laboratory director. Minimal field for US labs offering clinical tests. Optional field for international labs or US labs performing research tests. If pending renewal or record has not been updated, the expiration date may be in the past., Number: 99D2092375, Expiration date: 2025-04-20
CAP, Number: 9257331, Expiration date: 2024-04-22
ISO15189, Number: T292, Expiration date: 2024-02-02

Licenses

CA - California Department of Public Health CDPH, Number: CDS00800637, Expiration date: 2024-04-30
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: 2024-08-15
RI - State of Rhode Island Department of Health RIDOH, Number: LCO01312, Expiration date: 2024-12-30

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.