UAB Medical Genomics Laboratory - Submitter

UAB Medical Genomics Laboratory (UAB Medicine)

UAB Medical Genomics Laboratory
UAB Medicine
720 20th Street South Suite 330
Birmingham
Alabama
United States - 35233
https://www.uab.edu/medicine/genetics/medical-genomics-laboratory
Organization ID: 221768

Level: Assertion criteria provided

Total submissions: 190

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Disease name	Number of tests
Atypical teratoid rhabdoid tumor	2 tests
Bannayan-Riley-Ruvalcaba syndrome	1 test
Cafe au lait spots, multiple	1 test
Capillary malformation-arteriovenous malformation syndrome	1 test
Cardiofaciocutaneous syndrome 1	2 tests
Costello syndrome	3 tests
Familial meningioma	1 test
Fragile X syndrome	1 test
Juvenile myelomonocytic leukemia	2 tests
LZTR1-related schwannomatosis	1 test
Legius syndrome	5 tests
Macrocephaly-autism syndrome	1 test
Malignant rhabdoid tumor, somatic	2 tests
Medium-chain acyl-coenzyme A dehydrogenase deficiency	1 test
Meningioma	1 test
Neurofibromatosis, familial spinal	3 tests
Neurofibromatosis, type 1	8 tests
Neurofibromatosis, type 2	7 tests
Neurofibromatosis-Noonan syndrome	2 tests
Noonan syndrome	2 tests
Noonan syndrome with multiple lentigines	2 tests
Noonan syndrome-like disorder with loose anagen hair	2 tests
PTEN hamartoma tumor syndrome	1 test
Parkes Weber syndrome	1 test
Proteus syndrome	1 test
Proteus-like syndrome	1 test
Rhabdoid tumor	1 test
Rhabdoid tumor predisposition syndrome 1	2 tests
Rhabdoid tumor predisposition syndrome 2	2 tests
SCHWANNOMATOSIS, SOMATIC	1 test
SMARCB1-related schwannomatosis	5 tests
Schwannomatosis	1 test
Tuberous sclerosis 1	1 test
Tuberous sclerosis 2	1 test
Tuberous sclerosis syndrome	1 test
Von Hippel-Lindau syndrome	1 test