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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