Advanced laboratory services

Prenatal diagnosis is a test for the couples with self history or family history of any genetic disease or a positive carrier genetic test result who want to know if their fetus is affected by the same disease or not. The ultimate goal of PND test is to inform couples about the risk of a birth defect or genetic disorder in their pregnancy and to provide them with informed choices on how to manage that risk. Learn more

Recurrent pregnancy loss is defined as having two or more miscarriages.  Learn more

Molecular and genetic studies for female infertility are listed here. Learn more

The goal of genetic testing is twofold. First and foremost, is the need to identify genetic conditions that could be passed to the offspring through assisted reproductive techniques. Second, is the need to identify genetic conditions that may impact the ability to obtain spermatozoa through retrieval techniques such as microsurgical testicular sperm extraction. Learn more

Premature menopause is menopause that occurs before the age of 40 years. Learn more

Primary amenorrhea is defined as the absence of menses at age 15 years in the presence of normal growth and secondary sexual characteristics. Learn more

Non-invasive prenatal testing (NIPT), also known as cell-free DNA testing and non-invasive prenatal screening (NIPS), is an important addition to the range of screening tests for fetal chromosomal abnormalities. Learn more

Preimplantation genetic testing (PGT) encompasses methods that allow embryos to be tested for severe inherited conditions or for chromosome abnormalities, relevant to embryo health and viability. Learn more

Cervical cancer is highly preventable and can be easily treated if detected at early stages. However there is disproportionate high burden of cervical cancer incidence and mortality in low-middle income (LMIC) country settings that lack organized screening and prevention programs. Learn more

We offer Breast Cancer Susceptibility Genes, BRCA1 & BRCA2, test for hereditary breast & ovarian cancer screening and also more advanced panel of 21 gene study including genes such as BRCA1 & BRCA2, CHECK2, PALB2, BRIP1, MLH1.

It is DNA profiling for each individual to establish whether an individual is the biological father or mother of another individual. We offer the test on various samples such as blood, buccal swab, hair & nail

AMXY gene on X and Y chromosome and SRY gene on Y chromosome are studied through PCR for determining the sex of individual or fetus. The SRY gene is a key determinant of the development of male physical characteristics in the fetus. It is usually located on the Y Chromosome. Abnormalities of gender differentiation can be due to deletion or mislocation of this gene. The test provides diagnostic information.

Next Generation Sequencing (NGS) or massive parallel sequencing is any of several high-throughput approaches to DNA sequencing which has revolutionized the way scientists think about genetic information. As cost of NGS testing is coming down, we are going to be able to get a complete catalogue of disease genes. This will allow us to discover thousands of critical genes that cause different kinds of monogenic and multigenic diseases and cancers. Learn more

Early diagnosis and treatment can significantly improve both the quality of life and the lifespan of children born with cystic fibrosis. Screening of newborn infants is typically performed with panels of CFTR gene mutations. The mutations included in the panel vary depending on the ethnic diversity of the target populations. In Farabi Medical Laboratory a panel of 18 mutations is used which is verified for Mediterranean populations. Learn more

The detection of inborn errors of metabolism (IEM) depends upon a high index of suspicion and coordinated access to expert laboratory services. Laboratory evaluation for IEM should be undertaken in all patients with suggestive history, examination, and/or abnormalities of routine laboratory tests. Learn more

Inherited metabolic disorders (IMDs) are a group of rare conditions caused by genetic defects that disrupt the cellular metabolism. A growing number of IMDs are treatable if diagnosed early, but can be quickly fatal without prompt identification. With a multiomic approach, we can help accelerate the critical journey from symptoms to diagnosis by avoiding stepwise testing – saving time, resources, and pivotal years during which IMDs can rapidly progress. Learn more

The panel contains 112 genes for the molecular diagnosis  Learn more

This panel that include 211 genes sequencing plus copy number variations (CNV) is intended for patients with abnormalities in more than two blood cell types (red blood cell, white blood cell, and platelets) who present symptoms of lethargy, recurrent infections, excessive bleeding, abnormal pigmentation, enlarged spleen, and malignancies. Learn more

This panel that includes 326 genes is the solution for immunodeficiency and severe combined immunodeficiency (SCID) disorders. Learn more

A comprehensive NGS panel that includes 855 genes explicitly selected for the genetic testing of critically ill newborns and children under 24 months in intensive care units (ICU). Learn more

QuantiFERON-TB Gold (QFT) is an interferon-gamma (IFN-γ) release assay that aids in the diagnosis of tuberculosis. QFT is a modern alternative to the tuberculin skin test (TST, PPD or Mantoux) and unlike PPD, QFT is a controlled laboratory test that requires only one patient visit and is unaffected by previous Bacille Calmette-Guerin (BCG) vaccinations. QFT is highly specific and sensitive: a positive result is strongly predictive of true infection with M. tuberculosis. 

Genetic testing detects approximately 90 to 95 percent of mutant alleles and can be used to evaluate borderline cases. Learn more

Familial Mediterranean Fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of fever and polyserositis. It affects primarly people of Mediterranean, mostly Jews, Arabs, Armenians and Turks. The test we offer analyzes twenty mutations, which has been identified in exon 1; E84K, in exon 2; L110P, E148Q, E148V, E167D, E230K/Q, T267I, P283L, G304R, in exon 3; P369S, in exon 5; F479L and in exon 10; M680I (G/C-A), M694I, M694V, K695R, V726A, A744S, R761H. The range covers 99.2% of mutations of FMF in the Anatolian and Middle Eastern countries.

Celiac disease is a genetically determined immune-mediated disorder, that develops in genetically susceptible individuals mainly as a result of enteric exposure to gluten proteins after digestion of wheat, barley and rye. The genetic risk factors for celiac disease have been well characterized. More than 90% of the patients carry a major histocompatibility complex class II human leukocyte antigen (HLA) variant called DQ2 (encoded by DQB1*02 and DQA1*05). Most of the remainder carry an HLA variant called DQ8 (encoded by DQB1*0302 and DQA1*03). DQ2 and DQ8 variants are necessary for the development of celiac disease. Learn more

The risk (“odds”) of HLA–B51/B5 carriers developing Behcet Syndrome is increased by a factor of 5.78, and by a factor of 5.90 when considering only the split antigen HLA–B51. The pooled rates of HLA–B51/B5–positive BD cases varies across geographic locations, but the relative risk increases associated with this allele is fairly even for different ethnic populations. Learn more

HLA-B27 can be useful to increase the confidence of a diagnosis of axial spondyloarthritis (axSpA) in patients in whom plain radiographs or magnetic resonance imaging (MRI) also exhibit abnormalities consistent with axSpA. Learn more

Various molecular diagnostic techniques are used in Farabi Laboratory to provide investigations for a comprehensive range of monogenic diseases, such as:

• Congenital Adrenal Hyperplasia , CYP21A2 common mutations study by real time PCR
• Congenital Adrenal Hyperplasia NGS panel  7 genes includes CYP19A1, POR, CYP11B1, CYP17A1, HSD3B2, CYP11A1, STAR
• Familial Mediterranean fever (FMF) - MEFV gene, 20 common mutations study - Multiplex  real time PCR
• Familial Mediterranean fever (FMF) - MEFV gene All mutations – Sanger sequencing or NGS
• Osteogenesis Imperfecta, COLA1, COLA2, CRTAP genes - NGS
• Hereditary hemochromatosis (HH), HFE gene mutations for 12 common mutations - real time PCR
• Hereditary hemochromatosis (HH), HFE & TFR2 genes study for All mutations - NGS
• Angelman Syndrome, FISH
• Prader- Willi Syndrome, FISH
• DiGeorge syndrome (DGS), FISH
• Phenylketonuria (PKU), Sequence analysis of Phenylalanine hydroxylase PAH gene - NGS
• Tay-Sach’s disease, HEXA gene study - NGS
• Charcot-Marie-Tooth Disease (All types) done by NGS panel (27 genes)