Machaon Diagnostics

Personnel

Director: Mike Ero, Lab Director
Phone: 510-839-5600
Fax: 510-839-6153
Email: mike.ero@machaondiagnostics.com
Director: Brad Lewis, MD, ABIM, FACP, Medical Director
Yamini Bynagari, PhD, Director of Clinical Research
Email: yamini@machaondiagnostics.com
James Furgeson, PhD, Staff
Aimon Iftikhar, PhD, Staff
James Kain, PhD, VP of Genetics
Email: james.kain@machaondiagnostics.com
Sarah King, PhD, Staff
Jooeun Lim, PhD, Staff
Jihyun Moon, PhD, Staff
Connie Ng, Staff
Gayatri Raghuraman, PhD, Staff
Sutapa Sarkar, PhD, Staff
Frances Tran, PhD, Staff
Sujatha Venkataramani, PhD, Staff
Violet Votin, PhD, Staff

Conditions and tests

116 conditions/phenotypes with 44 tests
Enter text to narrow down the list

Adult hypophosphatasia1 test
Afibrinogenemia1 test
Arthrogryposis, renal dysfunction, and cholestasis 11 test
Arthrogryposis, renal dysfunction, and cholestasis 21 test
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD1 test
Autoinflammatory disease, X-linked1 test
Autosomal dominant Alport syndrome1 test
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency1 test
Autosomal recessive Alport syndrome1 test
Bernard Soulier syndrome1 test
Bleeding disorder, platelet-type, 13, susceptibility to1 test
CFHR5 deficiency3 tests
Childhood hypophosphatasia1 test
Chédiak-Higashi syndrome1 test
Cobalamin C disease1 test
Congenital afibrinogenemia2 tests
Congenital amegakaryocytic thrombocytopenia1 test
COVID-191 test
CYP2C19-related poor drug metabolism2 tests
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder1 test
Disorder due cytochrome p450 CYP2D6 variant2 tests
Drash syndrome1 test
Ectodermal dysplasia and immunodeficiency 11 test
Factor H deficiency2 tests
Factor XIII, A subunit, deficiency of1 test
Factor XIII, b subunit, deficiency of1 test
Familial dysfibrinogenemia1 test
Familial hemophagocytic lymphohistiocytosis 22 tests
Familial hemophagocytic lymphohistiocytosis 33 tests
Familial hemophagocytic lymphohistiocytosis 42 tests
Familial hemophagocytic lymphohistiocytosis 53 tests
Familial hemophagocytic lymphohistiocytosis type 12 tests
Ghosal hematodiaphyseal dysplasia2 tests
Glanzmann thrombasthenia1 test
Gray platelet syndrome1 test
Hemolytic uremic syndrome, atypical, susceptibility to, 12 tests
Hemophagocytic syndrome2 tests
Hereditary factor IX deficiency disease2 tests
Hereditary factor VIII deficiency disease2 tests
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX11 test
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency1 test
Hermansky-Pudlak syndrome 11 test
Hermansky-Pudlak syndrome 21 test
Hermansky-Pudlak syndrome 31 test
Hermansky-Pudlak syndrome 41 test
Hermansky-Pudlak syndrome 51 test
Hermansky-Pudlak syndrome 62 tests
Hermansky-Pudlak syndrome 71 test
Hermansky-Pudlak syndrome 81 test
Hermansky-Pudlak syndrome 91 test
Immunodeficiency 141 test
Immunodeficiency 14b, autosomal recessive1 test
Immunodeficiency 27A1 test
Immunodeficiency 281 test
Immunodeficiency 32B1 test
Immunodeficiency 361 test
Immunodeficiency due to CD25 deficiency1 test
Immunodeficiency, common variable, 121 test
Infantile hypophosphatasia1 test
Leukocyte adhesion deficiency 31 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
Macrothrombocytopenia, isolated, 1, autosomal dominant1 test
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency1 test
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency1 test
NAFLD11 test
Osteogenesis imperfecta type 101 test
Osteogenesis imperfecta type 111 test
Osteogenesis imperfecta type 121 test
Osteogenesis imperfecta type 141 test
Osteogenesis imperfecta type 151 test
Osteogenesis imperfecta type 161 test
Osteogenesis imperfecta type 51 test
Osteogenesis imperfecta type 61 test
Osteogenesis imperfecta type 71 test
Osteogenesis imperfecta type 81 test
Osteogenesis imperfecta type 91 test
Osteogenesis imperfecta type I1 test
Osteogenesis imperfecta type III1 test
Osteogenesis imperfecta with normal sclerae, dominant form1 test
Osteogenesis imperfecta, perinatal lethal1 test
Paris-Trousseau thrombocytopenia1 test
Plasminogen deficiency, type I1 test
Platelet-type bleeding disorder 101 test
Platelet-type bleeding disorder 181 test
Platelet-type bleeding disorder 81 test
Polycystic kidney disease 21 test
Polycystic kidney disease, adult type1 test
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency1 test
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection1 test
Pseudo von Willebrand disease1 test
Pseudo-TORCH syndrome 31 test
Purine-nucleoside phosphorylase deficiency1 test
Quebec platelet disorder1 test
Radial aplasia-thrombocytopenia syndrome1 test
Radioulnar synostosis with amegakaryocytic thrombocytopenia 11 test
SCOTT SYNDROME1 test
Severe combined immunodeficiency due to CARMIL2 deficiency1 test
Severe combined immunodeficiency due to CORO1A deficiency1 test
Stormorken syndrome1 test
Thrombocythemia 11 test
Thrombocytopenia 21 test
Thrombocytopenia 41 test
Thrombocytopenia 51 test
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia1 test
Upshaw-Schulman syndrome3 tests
von Willebrand disease type 14 tests
von Willebrand disease type 23 tests
Von Willebrand disease type 2A1 test
Von Willebrand disease type 2B1 test
von Willebrand disease type 34 tests
Warfarin response1 test
Wiskott-Aldrich syndrome2 tests
X-linked agammaglobulinemia1 test
X-linked agammaglobulinemia with growth hormone deficiency1 test
X-linked Alport syndrome1 test
X-linked lymphoproliferative disease due to XIAP deficiency2 tests

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Result interpretation

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: 05D1019489, Expiration date: 2025-08-07
CAP, Number: 7184658, Expiration date: 2025-02-08

Licenses

CA - California Department of Public Health CDPH, Number: CLF11803, Expiration date: 2024-12-28

Participation in external programs

Standardization programs

Mutation-specific Databases

Data exchange Programs

Mutation-specific Databases

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.