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Skeletal Dysplasia NGS Panel

Skeletal Dysplasia NGS Panel

Includes: Parameters

REPORT TIME:

SPECIMEN: 3ml of peripheral blood in EDTA for adult patients; For neonatal patients, Dried Blood Spots (FTA Cards) - Maximum 125 µl of the sample to be spotted per area of the card. Five full blood spots (circles) are required in order to run the test

Test Details (Parameters included : )

Parameter No. of Parameter

Doctors

Sequencing of ACAN, ACP5, ACVR1, ADAMTS10, ADAMTSL2, AGPS, ALPL, ALX3, 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, DVL1, DVL3, DYM, D

3ml of peripheral blood in EDTA for adult patients; For neonatal patients, Dried Blood Spots (FTA Cards) - Maximum 125 µl of the sample to be spotted per area of the card. Five full blood spots (circles) are required in order to run the test

NGS

12:00 PM (Daily)

NA

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