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GTR Home > Laboratories > FirmaLab

FirmaLab

GTR Lab ID: 256489, Last updated:2023-01-23
Annual Review past due read more

Personnel

  • Director: Marvin Pietruszka, MD, JD, Lab Director
    Phone: 818-789-1044
    Fax: 818-337-7250
    Email: pathologymd@aol.com
  • Yadira Valles, PhD, MD, DLM, Lab Associate Director
    Phone: 818-789-1033
    Fax: 818-789-1061
    Email: yadira@firmalab.com

Conditions and tests

  • 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 11 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

  • CLIAHelp, 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

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