Skeletal dysplasia gene panel

Test Code

GM117

LIS Code

Test Components

ACAN, ACP5, ACVR1, ADAMTSL2, AGPS, ALPL, ALX4, AMER1, ANKH, ANO5, AP2S1, ARHGAP31, ARSE, ATP6V0A2, ATR, B3GALT6, B4GALT7, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, CA2, CANT1, CASR, CC2D2A, CCDC8, CDC6, CDH3, CDKN1C, CDT1, CENPJ, CEP152, CEP290, CEP63, CHST14, CHST3, CHSY1, CLCN5, CLCN7, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CRTAP, CTSK, CUL7, CYP27B1, CYP2R1, DDR2, DHCR24, DHCR7, DLL3, DLX3, DMP1, DNA2, DYM, DYNC2H1, EBP, EFNB1, EIF2AK3, ENPP1, EP300, ERF, ESCO2, EVC, EVC2, EXT1, EXT2, FAM111A, FAM20C, FAM58A, FBLN1, FBN1, FERMT3, FGF10, FGF16, FGF23, FGF9, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, FREM1, GALNT3,GDF3, GDF5, GDF6, GJA1, GLI3, GNA11, GNAS, GNPAT, GORAB, GPC6, GSC, HDAC4, HES7, HOXA11, HOXD13, HPGD, HSPG2, IARS2, ICK, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT80, IHH, IL11RA, IMPAD1, INPPL1, KIF22, KIF7, LARP7, LBR, LEMD3, LEPRE1, LFNG, LIFR, LMBR1, LMNA, LMX1B, LRP4, LRP5, MAFB, MATN3, MEGF8, MEOX1,

Shipping Temperature

A

Specimen

Peripheral blood (EDTA) / Purified Genomic DNA

Department

Method

NGS

CAT

D

List Price

₹ 36000

CUToff

Sample Daily by 1 pm

Reporting Time

4 WEEKS

Comments

Connective Tissue Disorders and Skeletal Dysplasias