Skeletal Dysplasia Panel (23 Genes)
TEST CODE | MGT0200 |
TEST NAME | Skeletal Dysplasia Panel (23 Genes) |
RELATED GENE | COL1A1, COL1A2, COL2A1, CRTAP, DLL3, FGFR2, FGFR3, FLNB, SOX9, ARSE, DYNC2H1, EVC, GNPAT, PEX7, AGPS, EBP,IFITM5, LEPRE1, NEK1, PPIB, SLC26A2, TRIP11 , EVC2 |
SYNONYMOUS | COL1A1, COL1A2, COL2A1, CRTAP, DLL3, FGFR2, FGFR3, FLNB, SOX9, ARSE, DYNC2H1, EVC, GNPAT, PEX7, AGPS, EBP,IFITM5, LEPRE1, NEK1, PPIB, SLC26A2, TRIP11 , EVC2 |
OMIM | |
HEREDITY | |
CLINICAL AREA | Skeletal Dysplasias are a large group of genetically caused diseases characterized by abnormal development and growth of bones and cartilages. 23 genes associated with Skeletal Dysplasias are examined in this panel. |
METHOD | Next Generation Sequencing |
SAMPLE TYPE | Blood with EDTA |
QUANTITY | 3 mL |
TAT | 40 DAYS |
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