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
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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