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Disease Name: Ehlers-Danlos syndrome
Genes Covered:ADCY6, B4GALT7, CHRNA1, CHRNB1, CHRND, CHRNG, CHST14, COLEC11, DNM2, DOK7, EFNB1, EMG1, ERBB3, FBLN1, FBN2, FGF9, FGFR1, FGFR2, FGFR3, FKBP10, FLNB, GDF5, GLE1, GLI3, GSC, HOXA11, IL11RA, KRAS, LRP4, MASP1, MSX2, MUSK, MYBPC1, MYH3, MYH8, NOG, PIEZO2, PIP5K1C, PITX1, POR, PRMT7, PTPN11, RAB23, RAPSN, RECQL4, RIPK4, RYR1, SALL4, TBX22, TBX4, TNNI2, TNNT3, TPM2, UBA1, VIPAS39, VPS33B, ZIC1
Panel: Strand Skeletal Disorders Test
Disorder Category: Defects in joint formation & synostoses
Turnaround Time: 5-6 weeks from receipt of sample in the lab
Special Remarks: Some rare subtypes of these diseases are not covered in this test.