Cutis Laxa Type1A
TEST CODE | MG06260 |
TEST NAME | Cutis Laxa Type1A |
RELATED GENE | FBLN5 |
SYNONYMOUS | FBLN5 |
OMIM | 219100 |
HEREDITY | Autosomal Recessive |
CLINICAL AREA | Cutis Laxa Type 1A is an Autosomal Recessively inherited disease. Mutations in the FBLN5 gene have been associated with the disease. |
METHOD | Next Generation Sequencing |
SAMPLE TYPE | Blood with EDTA |
QUANTITY | 3 ml |
TAT | 40 DAYS |
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