CYTOGENETICS

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Cytogenetic facility of IMMD is an exclusive Ukrainian laboratory combining the full spectrum of all types of chromosome research in its activity that include prenatal, postnatal and onco-hematological studies both by traditional karyotyping method and modern molecular-cytogenetic method of fluorescent in situ hybridization (FISH).

Our researchers were interned in the IMMD laboratory in Germany and we use EU and US standards for chromosomal investigations. Our cytogenetic laboratory is equipped with superior instrumental base and its capabilities allow to study a wide range of clinical material, namely lymphocites, amniotic fluid, chorionic villi, cord blood, abortus and bone marrow.

We are constantly in lookout for optimal up-to-date experimental solutions and maintain a high professional level of our staff that was confirmed by our participation in such certification programs as CEQAS (The Cytogenomic External Quality Assessment Service) – the largest internationally operating Cytogenetic EQA schemes and BVDH (BERUFSVERBAND DEUTSCHER HUMANGENETIKER).

The list of our cytogenetic studies includes:

PRENATAL & POSTNATAL CYTOGENETIC INVESTIGATIONS

PRENATAL DIAGNOSTICS

  • Prenatal investigation of fetal karyotype
  • FISH for 5 chromosomes: 13,18,21, X and Y

POSTNATAL DIAGNOSTICS

  • Postnatal investigation of patient’s karyotype
  • Investigation of parents karyotype

FISH ANALYSIS OF MICRODELETION SYNDROMES

  • Velocardiofacial syndrome (Schrintzen syndrome)
  • Hyperkeratosis X-chromosomal, locus of steroidal sulfatase
  • Angelman syndrome
  • Williams-Beuren syndrome
  • Wolf-Hirschhorn syndrome
  • Syndrome Di George
  • Kalman syndrome
  • Cat scream syndrome (Cri-du-chat)
  • Miller-Dieker syndrome
  • Prader-Willi syndrome
  • Smith-Magenis Syndrome

ONCO-HEMATOLOGY

  • Karyotype investigation (blood and bone marrow)

FISH ANALYSIS

ACUTE MYELOID LEUKEMIA

  • BCR/ABL rearrangement t(9;22)(q34;q11)
  • PML/RARA rearrangement t(15;17)(q22;q12)
  • CBFB/MYH11 rearrangement inv(16)(p11q22)/t(16;16)
  • AML/ETO rearrangement t(8;21)(q22;q22)
  • MLL rearrangement (11q23)
  • MECOM rearrangement (3q26)
  • Deletion 5q31 (EGR1)
  • Monosomy 7/deletion 7q (MLL5/EZH2)
  • Deletion 17p13 (TP53)
  • Deletion 20q12 (PTPRT/MYBL2)
  • Trisomy 8 (cen8)

ACUTE LYMPHOBLASTIC LEUKEMIA

  • BCR/ABL rearrangement t(9;22)(q34;q11)
  • MLL rearrangement (11q23)
  • ETV6 rearrangement (12p13)
  • MYC rearrangement (8q24)
  • PDGFRB rearrangement (5q32-33)
  • TCRB rearrangement (7q34) (T-ALL)
  • TCRA/D rearrangement (14q11) (T-ALL)
  • Deletion 6q21/6q23 (SEC63/MYB)
  • Deletion 9p21 (p16)
  • Deletion 17p13 (TP53)
  • Trisomy 7 (D7Z1)
  • Trisomy 8 (cen8)

MYELODYSPLASTIC SYNDROMES

  • Deletion 5q31/5q33 (EGR1/D5S23, D5S721)
  • Deletion 7q (MLL5/EZH2)
  • Deletion 17p13 (TP53)
  • Deletion 20q12 (PTPRT/MYBL2)
  • Deletion 4q24 (TET2)
  • MECOM rearrangement (3q26)
  • Trisomy 8 (cen8)
  • Loss of Y chromosome (cenY)
  • Trisomy 1p/1q (CDKN2C/CKS1B)

MYELOPROLIFERATIVE NEOPLASMS

  • BCR/ABL rearrangement t(9;22)(q34;q11)
  • PDGFRA rearrangement (4q12)
  • PDGFRB rearrangement (5q32-33)
  • FGFR1 rearrangement (8p11)
  • ETV6 rearrangement (12p13)
  • Trisomy 8 (cen8)
  • Trisomy 9 (cen9)
  • Deletion 4q24 (TET2)
  • Deletion 13q14 (DLEU)
  • Deletion 17p13 (TP53)
  • Deletion 20q12 (PTPRT/MYBL2)
  • Trisomy 1p/1q (CDKN2C/CKS1B)

CHRONIC LYMPHOCYTIC LEUKEMIA

  • Deletion 6q21/6q23 (SEC63/MYB)
  • Deletion 11q22 (ATM)
  • Deletion 13q14 (DLEU)
  • Deletion 17p13 (TP53)
  • Trisomy 12 (cen12)
  • IGH rearrangement (14q32)
  • Probes to evaluate the IGH rearrangement

MULTIPLE MYELOMA

  • Deletion 1p32 / gain 1q21 (CDKN2C/CKS1B)
  • Deletion 13q14/ monosomy 13 (DLEU/LAMP)
  • Deletion 17p13 (TP53)
  • CBFB/MYH rearrangement (16q22/16q13)
  • IGH rearrangement (14q32)
  • IGH/FGFR3 rearrangement t(4;14)
  • IGH/CCND1 rearrangement t(11;14)
  • IGH/MAF rearrangement t(14;16)
  • IGH/MAFB rearrangement t(14;20)

NON-HODGKIN’S LYMPHOMA

  • Deletion 6q21/6q23 (SEC63/MYB)
  • Deletion 11q22 (ATM)
  • Deletion 13q14 (DLEU)
  • Deletion 17p13 (TP53)
  • Trisomy 12 (cen12)
  • IGH rearrangement (14q32)
  • BCL6 rearrangement (3q27)
  • MYC rearrangement (8q24)

T-CELL LYMPHOMA

  • Deletion 11q22 (ATM)
  • Deletion 13q14 (DLEU)
  • Deletion 17p13 (TP53)
  • Deletion 6q21/6q23 (SEC63/MYB)
  • MYC rearrangement (8q24)
  • ETV6 rearrangement (12p13)
  • TCRA/D rearrangement (14q11)

WALDENSTRÖM’S MACROGLOBINEMIA

  • Deletion 6q21/6q23 (SEC63/MYB)
  • Deletion 11q22 (ATM)
  • Deletion 13q14 (DLEU)
  • Deletion 17p13 (TP53)
  • Gain 3q (BCL6)
  • Gain 8q (MYC)

MANTLE CELL LYMPHOMA

  • IGH/CCND1 rearrangement t(11;14)
  • BCL6 rearrangement (3q27)
  • Deletion 17p13 (TP53)
  • Deletion 6q21/6q23 (SEC63/MYB)
  • Deletion 11q22 (ATM)
  • Deletion 13q14 (DLEU)

DIFFUSE LARGE B-CELL LYMPHOMA

  • IGH/BCL2 rearrangement t(14;18)
  • MYC rearrangement (8q24)
  • BCL6 rearrangement (3q27)
  • Deletion 17p13 (TP53)

FOLLICULAR LYMPHOMA

  • IGH/BCL2 rearrangement t(14;18)
  • MYC rearrangement (8q24)
  • BCL6 rearrangement (3q27)
  • Deletion 17p13 (TP53)

MARGINAL ZONE LYMPHOMA

  • BIRC3/MALT1 rearrangement t(11;18) MZL
  • MYC rearrangement (8q24)
  • IGH rearrangement (14q32)
  • Deletion 5q31/5q33 (EGR1/D5S23, D5S721)
  • Deletion 7q (MLL5/EZH2)
  • Deletion 17p13 (TP53)
  • BCL6 rearrangement (3q27)
  • Deletion 6q21/6q23 (SEC63/MYB)

HAIRY CELL LEUKEMIA

  • IGH rearrangement (14q32)
  • Deletion 6q21/6q23 (SEC63/MYB)
  • Deletion 11q22 (ATM)