FirmaLab

Personnel

Director: Marvin Pietruszka, MD, JD, Lab Director
Phone: 818-789-1044
Fax: 818-337-7250
Email: [email protected]
Yadira Valles, PhD, MD, DLM, Lab Associate Director
Phone: 818-789-1033
Fax: 818-789-1061
Email: [email protected]

Conditions and tests

71 conditions/phenotypes with 59 tests
Enter text to narrow down the list

Amyotrophic lateral sclerosis1 test
Amyotrophic lateral sclerosis type 12 tests
Amyotrophic lateral sclerosis type 212 tests
ANO5-Related Muscle Diseases1 test
Arrhythmogenic right ventricular cardiomyopathy1 test
Autosomal dominant centronuclear myopathy2 tests
Autosomal recessive limb-girdle muscular dystrophy1 test
Autosomal recessive limb-girdle muscular dystrophy type 2B1 test
Bernard-Soulier syndrome type C1 test
Bernard-Soulier syndrome, type A1 test
Bernard-Soulier syndrome, type B1 test
Bethlem myopathy 1A1 test
Breast and colorectal cancer, susceptibility to1 test
Breast-ovarian cancer, familial, susceptibility to, 11 test
Breast-ovarian cancer, familial, susceptibility to, 21 test
Brunner syndrome1 test
Cardiofaciocutaneous syndrome 11 test
Caveolinopathy2 tests
Cerebral cavernous malformation1 test
Charcot-Marie-Tooth disease type 21 test
Charcot-Marie-Tooth disease type 41 test
Charcot-Marie-Tooth disease, type I1 test
Congenital disorder of glycosylation1 test
Congenital generalized lipodystrophy1 test
Congenital myasthenic syndrome1 test
Cystic fibrosis1 test
Desmin-related myofibrillar myopathy2 tests
Diabetes mellitus3 tests
Dilated cardiomyopathy 1A1 test
Dilated cardiomyopathy 1C1 test
Dilated cardiomyopathy 1D1 test
Dilated cardiomyopathy 1E1 test
Dilated cardiomyopathy 1G1 test
Dilated cardiomyopathy 1R1 test
Dilated cardiomyopathy 1S1 test
Disorder due cytochrome p450 CYP2C19 variant1 test
Disorder due cytochrome p450 CYP2C9 variant1 test
Disorder due cytochrome p450 CYP2D6 variant1 test
Disorder due cytochrome p450 CYP3A41 test
Distal arthrogryposis1 test
Dubin-Johnson syndrome1 test
Familial cancer of breast1 test
Familial colorectal cancer1 test
Familial hemophagocytic lymphohistiocytosis type 11 test
Fanconi anemia1 test
G6PD deficiency1 test
GNE myopathy4 tests
Hereditary breast ovarian cancer syndrome1 test
Holoprosencephaly sequence1 test
Hyperhomocysteinemia1 test
Hypertrophic cardiomyopathy 11 test
Lysosomal acid lipase deficiency2 tests
Metachromatic leukodystrophy1 test
Methylmalonic acidemia1 test
Miyoshi muscular dystrophy 11 test
MTHFR THERMOLABILE POLYMORPHISM2 tests
MYH7-related skeletal myopathy1 test
Myofibrillar myopathy1 test
Myofibrillar myopathy 32 tests
Myopathy, myofibrillar, 9, with early respiratory failure2 tests
Nemaline myopathy1 test
Nemaline myopathy 22 tests
Neutropenia, severe congenital, 1, autosomal dominant1 test
Noonan syndrome1 test
Schizophrenia1 test
Sialuria1 test
Stuttering, familial persistent, 11 test
Thrombophilia due to activated protein C resistance1 test
Tobacco addiction, susceptibility to1 test
Usher syndrome type 11 test
Usher syndrome type 2A2 tests

List of services

Confirmation of research findings
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: 05D0992853, Expiration date: 2023-12-30
CAP, Number: 7179300, Expiration date: 2023-10-05

Licenses

CA - California Department of Public Health CDPH, Number: CLF 00329498, Expiration date: 2023-07-07

Participation in external programs

Standardization programs

Locus-specific Databases
Mutation-specific Databases

Data exchange Programs

ICCG (International Collaboration for Clinical Genetics) - Previously ISCA
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.