Molecular Services 

  •  Molecular analysis

Our molecular diagnostics laboratory is a state of the art facility that performs molecular testing on a wide range of DNA and RNA based tests for inherited genetic diseases, hematologic and solid malignancies and rare genetic disorders. These studies are also performed in close coordination with our Cytogenetics Laboratory to provide an integrated service to our patients and physician clients.

 

This unit utilizes basic molecular genetics (e.g., PCR, Sanger sequencing) as well as advanced technologies such as quantitative PCR and high-throughput SNP genotyping up to the level of genomic screening such as whole-exome sequencing or whole-transcriptome analysis.

Our Laboratory provides diagnostic services for the following diseases and we are continually expanding our test panel 

Cystic Fibrosis 

  • CTFR common mutation panel (Exon 3-5, 11-12,18,22,24) 

Duchenne Muscular Dystrophy 

  • DMD deletion (Exon) 

Epidermolysis Bullosa Dystrophica 

  • COL7A1 mutation (Exon 74, c.6187 C>T, p.Arg2063Trp) 

Familial Hemophagocytic Lymphohistiocytosis,Type 5 

  • STXBP2 mutation (Intron 16, c.1485+1 G>A) 

Fragile X Syndrome 

  • FMR1 gene repeat expansion analysis 

Frank-ter Haar syndrome 

  • SH3PXD2B mutation 

Glucose 6 Phosphate Deficiency 

  • G6PD mutation 

Haemoglobinopathies 

  • Sickle cell 

  • β-Thalassemia 

Hearing Impairment 

  • GJB2 mutation 

Multiple Mitochondrial Dysfunctions Syndrome 

  • ISCA2 mutation (c.229G>A, p.Gly 77 Ser) 

Obesity 

  • FTO gene polymorphisms 

Spinal Muscular Atrophy 

  • SMN1 deletion 

  • SMN2 copy number 

Thrombophilia 

  • Factor V -Leiden ( G1691A) 

  • MTHFR (C677T) 

  • Factor II -Prothrombin (G20210A) 

Myeloproliferative Neoplasm 

  • JAK2 - V671F 

  • JAK2- Exon 12 

  • CLAR –Exon 9 

  • MPN- Exon 10 

Haemtological Malignancies Mutation Screening 

  • FLT3 mutation 

    • ITD 

    • TKD-D835 

  • NPM1 mutation (Exon12) 

  • IDH1 (R132), IDH2 (R172) 

Haemtological Malignancies RNA Analysis 

  • BCR/ABL t(9;22) Qualitative 

  • BCR/ABL t(9;22) Quantitative 

  • AML/ETO t(8;21) Qualitative 

  • AML/ETO t(8;21) Quantitative 

  • PML/RARA t(15;17) Qualitative 

  • PML/RARA t(15;17) Quantitative 

  • CBFB/M4H11 Qualitative 

  • CBFB/M4H11 Quantitative 

Oncology sequencing 

  • BRCA1/BRCA2 

  • BRAF (V600E), 

  • HRAS (codons 12/13 and 61) 

  • KRAS (codons 12/13 and 61) 

  • NRAS (codons 12/13 and 61) 

  • IDH1 (R132), IDH2 (R172) 

  • RET (M918T) 

  • PIK3CA ( Exon 9, Exon 20) 

 

NGS Panels 

  • HBScan: خ²-Thalasemia (HBB, HBD, HBG1,HBG2, HBBP1, plus intronic region) 

  • Thromboscan (23 Genes) 

  • InbornX metabolism; congenital errors in metabolism (60 genes) 

  • OTOscan; Hearing loss (84 Genes) 

  • BRCA1/2 whole gene sequencing 

  • Cancer hot spot mutations (50 Genes) 

  • Oncoscan; familial cancer (74 genes) 

  • Custom-made genetic analysis. 

  • Whole-exome sequencing. 

  • Whole-transcriptome 

  •  Immunohistochemistry (IHC) analysis

The (IHC) laboratory employs state-of-the-art automation technology to provide outstanding IHC staining for known markers or on demand marker(s) on human tissues. The IHC lab perform prognostic and diagnostic services of solid tumors on fresh, frozen and/or formalin-fixed, paraffin-embedded tissue on single tissue sections or Tissue MicroArray (TMA) sections prepared by our histology laboratory or provided by the investigator. The majority of these studies are performed on Ventana automated immunostainers.

The core has also launched protocols and validating DNA probes for Bright Field Double in Situ Hybridization (BDISH) technique in frozen and FFPE tissue samples.

At GenaTi, we offer a list of standardized immunostains; and we also extend the opportunity to use other commercially available antibodies or antibodies newly developed by the investigator. 

Diagnostic Markers 

Cytokeratins (CKs)           SMA, calponin

P63                                    E-cadherin

SMMHC                            PSA

S100                                  GCDFP-15

CD10                                 CD56

  

Prognostic Markers

Ki-67                         TTF-1

Bcl2                           LCA

Thyroglobulin          AgNOR

uPA                            COX2

PAI-1                          MMPs

p53                            MMR

CAM

(MLH1, MSH2, MSH6 and PMS2)

Predictive Markers

HER2/neu              ER

EGFR                       PR

VEGF                       c-KIT

  • Flow Cytometry analysis

Diagnostic flow cytometry analysis is performed on the BD FACSAria III platform and offers support in cellular and molecular analysis of extracellular and intracellular proteins in normal and patient samples as well as sorting of individual cell populations from biological samples.

We offer a complete staining and analysis of samples using a list of diagnostic-grade antibodies. Custom analysis using alternative antibodies is also available upon request.

Conditions tested:

  •  Leukemia/ Lymphoma Immunophenotyping 

  •     CD2, CD3, CD4, CD5, CD7, CD8, CD10, CD11c, CD13, CD14, CD16, CD19, CD20, CD23, CD33, CD34, CD38, CD45, CD56, CD64, CD117, HLA-DR, kappa, and lambda. 

  •   Infiltrative lung Disease (CD4+/CD8+ lymphocyte ratio) 

  •   Leukemia DNA index & ploidy test 

  •   Stem Cell and Umbilical Cord blood Enumeration 

  •   Cell Cycle

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