Mikrogen - Experting Reproductive Genetics

Experting Reproductive Genetics

Cytogenetics

PTPRT (20q12 Deletion)

17p13.1 Deletion (p53)

FGFR1 8p12 Deletion

EGR1 5q31 Deletion

Monosomy/Trisomy 4

Monosomy/Trisomy 10

Monosomy/Trisomy 12

Monosomy/Trisomy 5

Monosomy/Trisomy 8

Monosomy/Trisomy 7

IGH/MALT1 Fusion t(14;16) (q32;q21)

t(9;11) (p22;q23)

KMT2A/AFF1 (t(4;11) (q21;q23))

inv(16) (p13;q22)/t(16;16) (p13;q22) CBFB Geni

MYC – IGH Fusion t(8;14) (q24;q32)

IGH/BCL2 Fusion (t(14;18) (q32;q21))

ETV6(TEL)/RUNX1(AML1) (t(12;21) (p13;q22)) Fusion

FGFR3/IGH Fusion (t(4;14) (q16;q32))

t(1;19) )(q23;p13.3) TCF3/PBX1

CCND1/IGH Fusion (t(11;14) (q13;q32))

t(15;17) (q22;q21) PML/RARA Fusion

RUNX1/RUNX1T1 Fusion (t(8;21) (q22;q22))

BCR – ABL Fusion (t(9;22) (q34;q11.2 ))

Chimerism (FISH)

TCF3/PBX1 (t(1;19)(q23;p13.3))

t(15;17) (q22;q21) PML/RARA Fusion

PDGFRB (5q32 Deletion)

PDGFR BETA FISH(5q32-q33)

MYB Deletion (6q23,3) FISH

MECOM t(3;3) ; inv (3) (3q26) FISH

IGH changes (14q32.33)

DEK/NUP214 t(6;9) FISH

CDKN2A (9p21) / 9q21 FISH

BCL6 (3q27) FISH

ALK(2p23.2-2p23.1)-ROS1(6q22) Panel

6q21 FISH Analysis

Shox Deletion – Short Stature Homebox

Steroid Sulfatase Deficiency – STS Gene Deletion

Kallman Syndrome – KAL1 Gene Deletion Del Xp22.3

Subtelomeric FISH – Subtelomeric Deletion Screening

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