Thalassaemias are the most common single gene disorders in the populations of the Mediterranean Sea, Middle East and South Asia. They are characterized by producing either no hemoglobin or very little hemoglobin which is used by red blood cells to carry oxygen around the body. People with thalassaemia feel tired, short of breath and weak without proper treatment. The main human globin HbA is a protein that consists of two α protein chains and two β protein chains.

Thalassaemias are divided into categories:

• alpha-Thalassaemia, when one or more genes related to the alpha-globin protein chain are missing or mutated,
• beta-Thalassaemia, when similar gene defects affect the production of the beta-globulin protein chain,
• delta beta-Thalassaemia, when the synthesis of δ and β protein chains is affected.

The disease is inherited in an autosomal recessive manner. When both parents are carriers there is a 25% risk to have affected offspring.

Sample type: Blood sample in EDTA containing tube, amniotic fluid, chorionic villi

Time to obtain result: 2 weeks

Cystic Fibrosis (CF) is the most common hereditary disease in the Caucasian population, and in Greece carriers represent about 4% of the population. It is an autosomal recessive disease caused by mutations in the CFTR (Cystic Fibrosis Transmembrane Regulator) gene in chromosome 7 and occurs once in 3200 births.  When both parents are carriers there is a 25% risk to have affected offspring. The most frequent mutation in the CFTR gene is p.F508del. The genetic variability is very high, more than 1900 different mutations in the responsible CFTR gene have been described worldwide. The mutations and their respective frequencies have a distinct ethnic and geographic distribution.

Patients suffer from various health problems related to the lungs (chronic bronchitis), pancreas (pancreatic insufficiency, juvenile diabetes, pancreatitis) and liver (cirrhosis) and have a reduced life expectancy. CF is characterized by the production of sweat with a high electrolyte content and increased secretion of exocrine glands.

Sample type: Peripheral blood on EDTA, amniotic fluid, chorionic villi

Time to obtain result: 5-15 working days. This will depend on the type of exam that you choose to have: specific mutation of CFTR gene or whole gene sequencing.

Hemochromatosis, or iron overload, is associated with high iron absorption from foods, which can damage many organs including the heart, liver and pancreas. It can lead to liver cirrhosis, diabetes, cardiomyopathy and hypogonadotropic hypogonadism. It isn’t preventable, but early diagnosis and treatment can avoid, slow or reverse organ damage. Hemochromatosis occurs in once in 250 births and is an autosomal recessive disorder. It’s often genetic and 85% of cases of haemochromatosis are due to the C282Y and H63D mutations of the HFE gene. 

Sample type: Blood sample in EDTA containing tube  

Time to obtain result: 5-7 working days.

Familial Mediterranean Fever (FMF) is the most common monogenic autoinflammatory disorder that mainly affects people of Mediterranean origin. FMF is an inherited condition which causes recurrent episodic attacks of fever and painful inflammation of the abdomen, chest, and joints and serositis (chest, abdomen, joints), leading to painful attacks during early childhood. FMF patients may also develop a rash or headache during these attacks. Less commonly, symptoms begin later in life. The first attack usually occurs in childhood, and in 80-90% of people affected by FMF begins before the age of 20 years. All attacks develop in over 2 to 4 hours and last anywhere from 6 hours to 4 days. FMF is caused by mutations in MEFV gene, and it is an autosomal recessive disease. The frequency of carriers in these populations ranges from 1 in 3 to 1 in 7. Without treatment to help prevent attacks, the disease can result in serious secondary amyloidosis damage, especially in the kidneys, with the potential development of kidney failure.

Sample type: Blood sample in EDTA containing tube 

Time to obtain result: 1-2 weeks. This will depend on the type of exam that you choose to have: Hotspots or whole gene sequencing.

Y chromosome microdeletions are the second most frequent genetic cause of male infertility (~1/4000 individuals) after Klinefelter syndrome and are associated with disorders of spermatogenesis (azoospermia and severe oligospermia). They are found in 5% to 10% of men with severe oligozoospermia and in 10% to 15% of men with azoospermia. Microdeletions are usually detected in the Y chromosome region of azoospermia factor (AZF), in three major regions, AZFa, AZFb, and AZFc, with known impacts on spermatogenic function and male fertility. These regions harbors genes that encode for proteins involved in sperm cell production and maturity. 

Sample type: Blood sample in EDTA containing tube 

Time to obtain result: 2 weeks

Achondroplasia (ACH) and hypochondroplasia (HCH) are genetic skeletal dysplasia disorders which are inherited in an autosomal dominant pattern. ACH is the most common cause of dwarfism. Ιn ACH the problem is not in forming cartilage (a tough but flexible tissue that makes up much of the skeleton during early development) but in converting it to the long bones of the arms and legs, a process called ossification. In people with ACH arms and legs are short, while the trunk is usually of normal length. They have short fingers and an enlarged head with a prominent forehead. Their intelligence is generally not affected. The features of ΗCH tend to be milder than ACH. HCH is also characterized by short stature with disproportionately short arms and legs and stocky build. The diagnosis of HCH is established in a proband with characteristic clinical and radiographic features.

Both disorders, are caused by mutations in the FGFR3 gene (Fibroblast Growth Factor Receptor 3) located on chromosome 4 (4p16.3). Approximately 99% of cases of ACH are due to the genetic variant c.1138G>A (p.Gly380Arg) and c.1138G>C (p.Gly380Arg) in FGFR3 gene. The incidence rate of HCH is estimated to be between 1 in 15000 and 1 in 40000 births. In 70% of cases, it is caused by the c.1620C>A and c.1620C>G mutations of the FGFR31 gene.

Sample type: Blood sample in EDTA containing tube, amniotic fluid, chorionic villi

Time to obtain result: 1-2 weeks. This will depend on the type of exam that you choose to have: specific mutation of FGFR3 gene or whole gene sequencing.

Spinal Muscular Atrophy (SMA) represents a group of genetic (inherited) neuromuscular diseases that cause certain muscles to become weak and waste away (atrophy). SMA is a condition that causes the loss of a specific type of nerve cell in your spinal cord and in the brain which is called motor neurons and control muscle movement. Without these neurons, the muscles of the body don’t receive the nerve signals that cause them to move. In the mildest cases, symptoms begin in adulthood and independent movement-such as walking-may become more difficult, possible yet. Muscle weakness tends to worsen with time and life expectancy significantly reduces.  It presents autosomal recessive inheritance, which means both parents have to be carriers of the disease. There are five subtypes, which range in severity and age of onset. Researchers estimate that it affects 1 in 6000 to 10000 live births. 

The disease is caused by mutations in the SMN1 (survivor motor neuron 1) gene. SMA is caused by a deficiency of the SMN protein, which is most often the result of a deletion (or loss) of a part of the SMN1 gene. Motor neurons need this protein to survive and function properly. Without enough of the SMN protein your brain can’t control voluntary movements, especially motion in your head, neck, chest and legs. The SMN2 gene also produces a small amount of SMN protein, and a person may have up to eight copies of an SMN2 gene. Having multiple copies of the SMN2 gene typically leads to less severe SMA symptoms because the extra genes make up for the missing SMN1 protein.

Sample type: Blood sample in EDTA containing tube, amniotic fluid, chorionic villi

Time to obtain result: 2 weeks

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder, caused by the deficiency of one of the enzymes required for the synthesis of cortisol in the adrenal glands. 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (more than 90% of the cases). 

Sample type: Blood sample in EDTA containing tube 

Time to obtain result: 2 weeks

RET gene encodes a transmembrane receptor and member of the tyrosine protein kinase family of proteins. Binding of ligands can lead to activation of downstream signaling pathways that play a role in cell differentiation, growth, migration and survival. This proto-oncogene can undergo oncogenic activation through both cytogenetic rearrangement and activating point mutations. Variants in the RET proto-oncogene are associated with two distinct and, in rare cases, overlapping clinical syndromes: multiple endocrine neoplasia type 2 (MEN2) and Hirschsprung disease (HSCR). RET mutations are associated with thyroid cancers. 

Sample type: Blood sample in EDTA containing tube 

Time to obtain result: 2 weeks

Multiple endocrine neoplasia, type 1 (MEN 1), sometimes called Wermer’s syndrome, is a rare endocrine tumor syndrome with high penetrance and an inherited disorder. It primarily causes neoplasia in the endocrine system, usually the parathyroid glands, the anterior pituitary gland, and the neuroendocrine tissue of gastro-entero-pancreatic organ systems. However, the tumors are usually noncancerous (benign) and release excessive amounts of hormones that can lead to a wide variety of signs and symptoms (tiredness, bone pain, broken bones, kidney stones, and ulcers in the stomach or intestines). MEN 1 is caused by many different changes in the MEN1 gene which encodes protein menin. Menin helps to keep cells in the body from growing and dividing too quickly.

Sample type: Blood sample in EDTA containing tube 

Time to obtain result: 2 weeks

Celiac disease (CD) is an autoimmune disorder of the intestinal system triggered by the ingestion of gluten in genetically predisposed patients. Gluten is the main component of wheat, rice and barley. Numerous studies suggest a strong association of the disease with specific genes encoding HLA class II molecules, HLA-DQ2 (HLA DQA1*05/DQB1*02, DQ2.5) and HLA-DQ8, located on chromosome 6. Approximately 95% of patients with celiac disease express the HLA-DQ2 allele, while the remaining patients are characterized by the presence of the HLA-DQ8 allele. Therefore, the presence of HLA-DQ2 or HLA-DQ8 molecules is considered necessary but not sufficient for the development of the disease. 

Sample type: Blood sample in EDTA containing tube  

Time to obtain result: 1 weeks

The human leukocyte antigen (HLA) system is a gene complex encoding the major histocompatibility complex cell-surface proteins in humans with regulation of the immune system. Classic class I HLA consists of HLA-A, -B, and -C genes, whereas the main class II HLA genes are DP, DQ, and DR. Studies demonstrated that HLA genetic variants are associated with numerous disorders as systemic lupus erythematosus and rheumatoid arthritis. HLA-B27 is strongly associated with ankylosing spondylitis (AS), a chronic, disabling rheumatic disease with symptoms of chronic joint pain, stiffness, and inflammation in certain areas of your body. The percentages of HLA-B27 positivity in the general population and among AS patients are 5–10% and 90%, respectively. 

Sample type: Blood sample in EDTA containing tube 

Time to obtain result: 1 weeks

Non-syndromic hearing loss and deafness is an inherited condition in which an individual has mild to severe hearing loss, usually, from birth. Approximately 65% of cases are due to mutations in GJB2 gene, which encodes the protein connexin 26. The most frequent mutation of GJB2 gene is 35delG, which is detected in more than 90% of cases. Also, mutations or deletions in GJB6 gene, which encodes connexin 30, are the main causes of the disease. Typically, the condition does not worsen over time, but in some cases may be slowly progressive. 

Sample type: Blood sample in EDTA containing tube, amniotic fluid, chorionic villi 

Time to obtain result: 3-5 working days

Huntington disease is a progressive neurodegenerative disorder characterized by uncontrolled movements, dystonia, incoordination, cognitive decline, and behavioral problems. Huntington disease is caused by an expanded trinucleotide CAG repeat in ΗΤΤ gene and is inherited in autosomal dominant pattern. More than 36 CAG repeats are pathogenic and are associated with the development of disease. A larger number of repeats is usually associated with an earlier onset of signs and symptoms.

Sample type: Blood sample in EDTA containing tube, amniotic fluid, chorionic villi

Time to obtain result: 2 weeks

Spinocerebellar ataxias (SCAs) are a degenerative condition that affects the nervous system, there are degenerative changes in the part of the brain that controls the movement of the body (the cerebellum) and sometimes in the spinal cord. 

There are many different types of SCA, but their diagnosis is difficult due to overlapping clinical features. All subtypes of SCA are inherited in an autosomal dominant pattern and are usually caused by trinucleotide CAG expansion mutations in the coding region of the corresponding gene. Expansion of the number of repeats beyond normal limits results in a pathological condition. Signs and symptoms can vary depending on the type, but early signs of the disease usually include an uncoordinated gait, poor hand-eye coordination, slurred speech and difficulty with balance.

Sample type: Blood sample in EDTA containing tube 

Time to obtain result: 2 weeks

Thrombophilia is a condition that makes your blood more likely to form clots in your blood vessels, a condition called thrombosis. Two types of thrombophilia have been described, congenital and acquired. Congenital thrombophilia is usually inherited and results from either increased expression of clotting factors or a deficiency of natural blood anticoagulants. Acquired thrombophilia occurs later in life because of various predisposing factors such as obesity, pregnancy, oral contraceptives, peri-menopausal hormone therapy, sickle cell anaemia, Crohn’s disease and metastatic cancer.

Thrombophilia has been associated with miscarriage and various complications of pregnancy, including severe pre-eclampsia, fetal growth restriction and fetal death. By increasing the formation of clots in the endometrial vessels and particularly at the implantation site, thrombophilia causes obstruction of normal blood flow and nutritional deficiencies in the developing fetus. These complications can be avoided by appropriate anticoagulation therapy.

Sample type: Blood sample in EDTA containing tube 

Time to obtain result: 2 weeks

Noonan syndrome is a typical genetic disorder that occurs in 1 in 2000 births. It is an autosomal dominant disorder. Patients are mainly characterized by short stature, facial anomalies such as wide eyes and low set ears, and congenital heart defects. Patients also differ phenotypically due to the heterogeneity of the disease, which can change with age. 

In 50% of cases, the syndrome is caused by mutations in the PTPN11 gene. The analysis includes testing for mutations in the PTPN11, BRAF, SOS1, HRAS, KRAS, RAF1, MAP2K1 and MAP2K2 genes.  

Sample type: Blood sample in EDTA containing tube, amniotic fluid, chorionic villi

Time to obtain result: 2 weeks

Fragile X syndrome (FXS), or Martin-Bell syndrome, is a non-Mendelian trinucleotide repeat disorder. FXS is the most prevalent inherited cause of mild-to-severe intellectual disability and the most common monogenic cause of autism spectrum disorder. Physical features include a long, narrow face with a prominent jaw and forehead, hyperflexible fingers, and large ears. About a third of these children have features of autism and delayed speech that are present from an early age. Hyperactivity and seizures are common. Almost all cases of FXS are due to reduced production or complete absence of the FMRP protein encoded by the FMR1 gene, because of the increased number of repeats of a CCG trinucleotide (>200) that makes the genomic region unstable. The normal number of CCG repeats is between 5 to 44. Individuals with intermediate expansion have 45 to 54 CGG repeats, individuals with premutation expansion have 55 to 200 repeats, and those with a full mutation have >200 repeats. The FMRP protein is a transporter of mRNA molecules and a regulator of protein synthesis important for nerve, testis and ovarian function. In the brain, it may play a role in the development of synapses which exhibit plasticity (learning and memory). 

Sample type: Blood sample in EDTA containing tube 

Time to obtain result: 2-3 weeks