FirmaLab (FirmaLab)
General information
FirmaLab
FirmaLab
870 N Vine Street
Los Angeles
California
United States - 90038
http://www.firmalab.com
Organization ID: 256489
FirmaLab
870 N Vine Street
Los Angeles
California
United States - 90038
http://www.firmalab.com
Organization ID: 256489
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 6
Gene
Condition
Name | Submissions | Last Updated |
---|---|---|
Dubin-Johnson syndrome | 1 | Mar 8, 2017 |
G6PD deficiency | 1 | Mar 8, 2017 |
GNE myopathy | 1 | Mar 8, 2017 |
Lysosomal acid lipase deficiency | 1 | Mar 8, 2017 |
MTHFR THERMOLABILE POLYMORPHISM | 1 | Mar 8, 2017 |
Usher syndrome type 2A | 1 | Mar 8, 2017 |
Testing in GTR
Disease name | Number of tests |
---|---|
ANO5-Related Muscle Diseases | 1 test |
Amyotrophic lateral sclerosis | 1 test |
Amyotrophic lateral sclerosis type 1 | 2 tests |
Amyotrophic lateral sclerosis type 21 | 2 tests |
Arrhythmogenic right ventricular cardiomyopathy | 1 test |
Autosomal dominant centronuclear myopathy | 2 tests |
Autosomal recessive limb-girdle muscular dystrophy | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2B | 1 test |
Bernard-Soulier syndrome type C | 1 test |
Bernard-Soulier syndrome, type A | 1 test |
Bernard-Soulier syndrome, type B | 1 test |
Bethlem myopathy 1A | 1 test |
Breast and colorectal cancer, susceptibility to | 1 test |
Breast-ovarian cancer, familial, susceptibility to, 1 | 1 test |
Breast-ovarian cancer, familial, susceptibility to, 2 | 1 test |
Brunner syndrome | 1 test |
Cardiofaciocutaneous syndrome 1 | 1 test |
Caveolinopathy | 2 tests |
Cerebral cavernous malformation | 1 test |
Charcot-Marie-Tooth disease type 2 | 1 test |
Charcot-Marie-Tooth disease type 4 | 1 test |
Charcot-Marie-Tooth disease, type I | 1 test |
Congenital disorder of glycosylation | 1 test |
Congenital generalized lipodystrophy | 1 test |
Congenital myasthenic syndrome | 1 test |
Cystic fibrosis | 1 test |
Desmin-related myofibrillar myopathy | 2 tests |
Diabetes mellitus | 3 tests |
Dilated cardiomyopathy 1A | 1 test |
Dilated cardiomyopathy 1C | 1 test |
Dilated cardiomyopathy 1D | 1 test |
Dilated cardiomyopathy 1E | 1 test |
Dilated cardiomyopathy 1G | 1 test |
Dilated cardiomyopathy 1R | 1 test |
Dilated cardiomyopathy 1S | 1 test |
Disorder due cytochrome p450 CYP2C19 variant | 1 test |
Disorder due cytochrome p450 CYP2C9 variant | 1 test |
Disorder due cytochrome p450 CYP2D6 variant | 1 test |
Disorder due cytochrome p450 CYP3A4 | 1 test |
Distal arthrogryposis | 1 test |
Dubin-Johnson syndrome | 1 test |
Familial cancer of breast | 1 test |
Familial colorectal cancer | 1 test |
Familial hemophagocytic lymphohistiocytosis type 1 | 1 test |
Fanconi anemia | 1 test |
G6PD deficiency | 1 test |
GNE myopathy | 4 tests |
Hereditary breast ovarian cancer syndrome | 1 test |
Holoprosencephaly sequence | 1 test |
Hyperhomocysteinemia | 1 test |
Hypertrophic cardiomyopathy 1 | 1 test |
Lysosomal acid lipase deficiency | 2 tests |
MTHFR THERMOLABILE POLYMORPHISM | 2 tests |
MYH7-related skeletal myopathy | 1 test |
Metachromatic leukodystrophy | 1 test |
Methylmalonic acidemia | 1 test |
Miyoshi muscular dystrophy 1 | 1 test |
Myofibrillar myopathy | 1 test |
Myofibrillar myopathy 3 | 2 tests |
Myopathy, myofibrillar, 9, with early respiratory failure | 2 tests |
Nemaline myopathy | 1 test |
Nemaline myopathy 2 | 2 tests |
Neutropenia, severe congenital, 1, autosomal dominant | 1 test |
Noonan syndrome | 1 test |
Schizophrenia | 1 test |
Sialuria | 1 test |
Stuttering, familial persistent, 1 | 1 test |
Thrombophilia due to activated protein C resistance | 1 test |
Tobacco addiction, susceptibility to | 1 test |
Usher syndrome type 1 | 1 test |
Usher syndrome type 2A | 2 tests |