Preimplantation genetic screening PGS can benefit any couple at risk from passing on
genetic\chromosomal abnormalities.

Promoting excellence and professionalism in the delivery of laboratory services through patient – focused,
cost – effective diagnostic services.

The GenaTi team of researchers and scientists continues to work tremendously hard in order to set up new research
priorities and strategic directions for the GenaTi that are crucial to strengthening Saudi Arabia's health care system.

GenaTi contributes to the prevention of genetic diseases in the Kingdom of Saudi Arabia by offering
pre-implantation genetic diagnosis and screening in its new IVF clinic

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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: β-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