With an approximately 40 year history and a background as the most specialized, modern genetic center in the country,Kariminejad-Najmabadi Pathology & Genetics Center offers counseling and genetic diagnosis services, and is located in Shahrak-e-Gharb, Tehran, Iran. Theorganization benefits from highly educated and specialized staff with up-to-date knowledge and specialist software, accessing the most recent technologies, and national and international collaboration capabilities, while complyingwith the most rigorousinternational technical standards.

This multidisciplinary laboratory consists of several divisions:

• Counseling and Clinical Genetics Division
• Cytogenetic Division
• Molecular Division
• Pathology and Cytology Division
• Molecular Cytogenetic Division

The Counseling and Clinical Genetics Division of Kariminejad-Najmabadi Pathology & Genetics Center offers genetic counseling to the client or his/her family who are at risk of developing a heritable disease. In the counseling process, they are informed about the nature of the risk, the probability of increasing the severity of the disease, the developmentof the disorder or transmitting it to future generations. In addition, during the genetic counseling service, the client is provided with information about the options available todeal with the risk of developing and/or transmitting the disease.

Our specialists in this division provide clinical investigations and when a firm diagnosis has been made, they will refer the individuals affected with, for example, cognitive disorders or congenital abnormalities to be investigated more thoroughly by genetic diagnostic services in the other specialized divisions in our Center.

Other groups who receive our genetic counseling services are children or pregnant women for whom the diagnosis of a genetic disease has been established.

The following groups of people are recommended for referral to the genetic center for genetic counseling:

1. A personal history or family history of a child affected by chromosomal abnormalities; the most prevalent abnormality is trisomy 21 or Down syndrome,

2. A personal history or family history of a hereditary condition such as cystic fibrosis, Duchene muscular dystrophy, intellectual disability, or hearing loss,

3. A family history of hereditary cancer,

4. The existence of ambiguous genitalia,

5. Repeated pregnancy loss, or stillbirth,

6. A personal history or family history of facial dysmorphology and congenital abnormalities,

7. A personal history or family history of blood disorders,

8. A personal history or family history of multifactorial disorders.

The Cytogenetic Division of Kariminejad-Najmabadi Pathology & Genetics Center provides cytogenetic services using different techniques on various kinds of tissue which have been received. The diagnostic services include prenatal diagnosis (on amniotic fluid and chorionic villus samples), postnatal diagnosis (using blood and tissue samples), and diagnosis of cancers (on blood, bone marrow, and tissue samples).

By applying leading-edge knowledge, techniques, modern and specialized technologies for tissue culture, staining, photo analysis, karyotyping, and if necessary,complementary methods and powerful tools such as molecular cytogenetics,the division can produce resultswith maximum accuracy and efficacy in a short time and complying with international guidelines. Individuals who have a normal karyotype,despite their developmental delay, intellectual disability or congenital abnormalities, will undergo high-resolution karyotyping. The cytogenetic laboratory inour Center uses the oligoarray Comparative Genomic Hybridization (oaCGH) method for complementary diagnostic services in such cases.

Statistics and reports from our Center on ouractivities over the past three decades indicatea higher detection rate in this field in comparison with reference international values.

The vast amount of genetic information now available, enhancing the public view about the relationship between genetics and health, has resultedin an increased demand for genetic tests.

The Molecular Division of Kariminejad-Najmabadi Pathology & Genetics Center provides a wide variety of common and unique molecular tests. This divisionperforms DNA sequencing for any genes, semi-quantitative PCR, methylation analysis, Multiplex Ligation-Dependent Probe Amplification (MLPA), mutation screening panels, SNPgenotyping for single or multiple gene disorders, and finally offering exome and targeted Next Generation Sequencing (NGS) for many disorders.

In addition,thelast 6 years development of high throughput, massively parallel sequencing NGS technology has revolutionized molecular diagnosis, enhanced diagnostic capabilities, and hasbrought about an unparalleled application to the identification of the molecular basis of hard-to-diagnose genetic disorders.Our team brings together a multidisciplinary set of backgrounds and skills frommolecular biologists, geneticists, and physicians and our developed diagnostic panels and standard analysis pipelineenable us to accurate diagnosis and interpretation ofcommon and rare genetic conditions.

By applying the latest technology in clinical genetics,this division has made every attempt to stay current with all the recent developments, in order to enhance the discoveryof genetic mutationsand shorten the time to diagnosis as much aspossible.

The Molecular diagnostic services in this division include prenatal diagnosis, Carrier detection and diagnosis (using blood and tissue samples) and Preimplantation Genetic Diagnosis (PGD).

Pathology,the study of the origin, nature, and course of diseases,includes a number of distinct but inter-related medical specialties that diagnose disease,mostly through analysis of tissue, cells and body fluid samples, leading to a conclusive diagnosis based on findings.

From its inception, the main focus of the Pathology and Cytology Division of Kariminejad-Najmabadi Pathology and Genetics Center has been anatomical pathology services. Services provided in this sectionincludesurgical, post-mortem pathology, and cytological examination, on fetal samples (autopsy, placental pathology investigation), and gynecological specimens. By further developing the anatomical pathology section in 2009, the current services offered by this sectioninclude postmortem exams (fetal, newborn autopsy, placental pathology), pathological diagnosis of different types of excisional biopsies, immunohistochemistry (IHC), FISH for tissue samples, preparing samples suitable for cancer molecular tests, as well as other molecular tests, and providing histological glass slides and tissue blocks. The clinical pathology section is only active in the field of prenatal diagnosis, the diagnosis of metabolic diseases in the fetus and newborn through the laboratory analysis of bodily fluids and/or tissues, as well as secondary molecular services. Public clinical pathologyservicesare not available in this division.

Molecular cytogenetics involves the combination of molecular biology and cytogenetics. It includes a series of techniques referred to as Comparative Genomic Hybridization (CGH), and Fluorescence In Situ Hybridization (FISH).

Introduced in 1980, FISH bridges classic cytogenetic analysis and molecular diagnostic techniques. This method is useful for diagnostic and prognostic purposes for various cancers, microdeletions, prenatal diagnoses, and confirmation of findings by other methods.

Microarray-based Comparative Genomic Hybridization (array CGH) includes the following methods: Illumina microarray data sheet (4x4), (8x60), (24sure), (array CGH 24), and (sure plus). Array CGHis a significant advance in technology that allows detection of chromosome imbalances, microdeletions and microduplicationsin the entire genome. It is a high resolution technique, provides the most comprehensive analysis of chromosomal structure currently routinely available, andhas replaced conventional chromosome analysis (karyotyping). In fact, array CGH is a significant advance in technology that allows the detection of chromosome imbalances that are too small to be detected by routine karyotyping. The diagnosis rate is increased by using array CGH compared with routine karyotype analysis, especially in cases ofdevelopmental delay, autism, imbalanced congenital abnormalities, physical retardation and intellectual disabilities. In addition, applying array CGH in the Molecular Cytogenetic Division assists classic cytogenetics inthe detection of unknown chromosomal segments and unknown deficiencies in the karyotype as well as recognizing chromosomal markers.

Diagnostic services in this division include prenatal diagnosis (on amniotic fluid and chorionic villus samples), postnatal diagnosis (using blood and tissue samples) and Preimplantation Genetic Screening (PGS).