Age-Related Macular Degeneration – AMD
Age-related macular degeneration (AMD) is characterized by pathologicalchanges of the retinal pigment epithelium (RPE), progressive degeneration ofphotoreceptors, thickened Bruch’s membrane and choroidal neovascularization.
These alterations lead to the loss of sharp, central vision. It is an age-related
process and usually develops after a person reaches 50 years.
In Western Europe and USA 30% of people older than 75 years suffer from different
types of AMD. 85-90% cases of AMD are dry AMD, which have no treatment.
10-15% cases of AMD are wet AMD, which have number of treatments available(injection into the eye to stop further development) and early diagnosis can savevision.
AMD increased risk assessment enables prevention and early diagnosis of thedisease. The early diagnosis is vital to delay progression of disease and vision loss.
Indications for genetic testing:
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2.
3.

Risk determination of at-risk individuals for early diagnosis and prediction ofdisease progression
Risk assessment of individuals with family history of AMD
Genetic counseling

Alzheimer Disease, Recovery from Traumatic
Brain Injury, Coronary Heart DiseaseApolipoprotein E (ApoE) function is to transport cholesterol and other lipids inblood circulation and the central nervous system. ApoE is essential to maintain thestructural integrity of lipoproteins, stabilize and solubilize lipoproteins in the blood,and to serve as cofactor in enzymatic reaction.
ApoE mediates cholesterol metabolism in an isoform dependent manner. The
human ApoE gene exists as three polymorphic alleles – isoforms ε2, ε3 and ε4.
Differences between the three ApoE isoforms are limited to amino acid residues
112 and 158, where either cysteine or arginine is present. The single amino aciddifferences at these positions affect the structure of ApoE isoforms and influence
their ability to bind lipids, receptors and amyloid-B peptides in brain.
Patients with the ApoE4 genotype recover from brain injury much more slowly,
have an increased danger of postoperative complications in cognitive functions,and also have a much worse general prognosis. The ApoE4 genotype is also
associated with an elevated risk of late onset Alzheimer’s disease and coronary
heart disease.
Indications for genetic testing:
1. Risk assessment for Alzheimer disease
2. Determination of prognosis for recovery of the brain injury
3. Risk assessment for3. Genetic counselingAthletic performance test of strength, speedand endurance
Nowadays it is possible to investigate an individual’s genetic prerequisite to aspects
of athleticstrength, speed and endurance.
This genetic test has been especially designed for the serious sports enthusiast tostudy two genes that are connected with athletic performance: ACE and ACTN3.
ACE influences cardiovascular performance and adaptation to physical strain,
ACTN3 regulates muscle performance.
Identification of ACE and ACTN3 gene variants allows to determine whether theindividual is successful in sprint and strength sports (sprint distances, hurling andthrowing sport, bodybuilding etc), endurance sports (running, skiing, rowing,triathlon etc) or whether the person is a so-calleduniversal sportsman.
In addition to genetic factors, success of a sportsman depends on several factors
as nutrition, living and training conditions, psychological factors.
It is easier to choose the most suitable sport for you, if you are aware of yourhereditary prerequisites. The best results are achieved by those who does not only
have favourable environment conditions and sufficient motivation, but also has themost suitable gene set for the specific sport.
argeted mutation analysis enables testing of 2 variants in genes ACE, ACTN3
associated with athletic performance.
Turnaround Time:
10 working days
Specimen Requirements:
Buccal cell sample
The sample collection kit and instructions for the sample collection will be sent by
Asper Biotech.

Celiac Disease
Celiac disease (CD) is chronic gluten-intolerance that primarily affects small
intestine in genetically predisposed individuals. Complaints are resolved byexclusion of gluten from diet. CD is characterized by nutrient malabsorption
resulting from inflammatory injury to the mucosa of the small intestine afteringestion of wheat gluten or similar proteins in rye, barley and triticale (hybrid ofwheat and rye). In contrast rice, buckwheat, millet and corn have generally been
considered safe grains for celiac patients. Oats can be introduced into the diet of
most people with CD (>95%) but only if oats are confirmed to be uncontaminatedby other gluten-containing grains.
The prevalence of CD is estimated at about 1:100 in Caucasian population.
Although CD has long been considered a pediatric syndrome, it has been
increasingly diagnosed in older children and adults.
CD has a multifactorial inheritance. Pathogenesis of CD is caused by a combinationof environmental factors, immunologic factors and variations in multiple genes. It
has been shown that viral infections altering intestinal permeability, gut microbiota,
breast-feeding and timing of gluten introduction in infant diet influence developmentof celiac disease. The most important genetic risk factors for CD are presence ofHLA-DQ heterodimers DQ2 (encoded by alleles A1*05 and B1*02) and DQ8(encoded by alleles A1*03 and B1*0302).
> Celiac Disease – read more
Indications for testing:
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3.
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5.

Testing patients with symptoms, such as chronic diarrhea with weight loss,
steatorrhea, postprandial abdominal pain, and bloating
Testing seronegative patients with equivocal small-bowel histological finding
Evaluation of patients on a gluten free diet (GFD) who have not been tested
for CD before GFD
Testing patients with discrepant celiac-specific serology and histology
Screening of risk groups (e. g. first-degree relatives, specific syndromes anddiseases)

Lactose Intolerance
Lactose intolerance is a widespread metabolic disorder caused by the inability todigest lactose due to a shortage of the lactase enzyme. The typical symptoms oflactose intolerance (inactive lactase enzyme) include abdominal pain, bloating,flatus, diarrhea, and occasionally nausea and vomiting.
Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Differentiation between primary and secondary hypolactasia
RFLP (restriction fragment length polymorphism) based test detects the variation(-13910C>T) near the LCT gene which is associated with lactose intolerance.
The test is available with diagnostic package service (includes DNA extraction,genotyping, interpretation, hard copy of the results report).
Turnaround Time:
Diagnostic package service
1-2 weeksSpecimen Requirements:
2-4 ml of blood with anticoagulant EDTA
Send blood samples at room temperature. Blood samples can be preserved at
2-8°C before shipping. Blood samples are recommended not to freeze and not tostore longer than one week.
200 ng DNA in TE, AE or pure sterile water at 100-250 ng/µl
Send DNA samples at room temperature or frozen. To avoid sample loss andcontamination, please use 0,5-2,0 ml screw cap tubes, tubes with safe lock lid or
wrap the caps of each microtube with parafilm.
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose
gel as a single band, showing no degradation, alongside with a quantitative DNAmarker.
2 ml of saliva
Preferred saliva collection kits are Oragene®DNA and SalivaGene Collection
Module II.

Nutri inCode
Nutri inCode test studies and integrates genetic and clinical data, as well as
information about individual’s lifestyle in order to estimate the predisposition toobesity and related diseases.Osteoporosis, diabetes and hypertension areamong other conditions, which risks are assessed with the test.
The test also enables personal evaluation of factors that influence the prevention ortreatment of obesity, such as appetite regulation, caloric expenditure, expected
response to hypocaloric diet and exercise.
In addition to detected genetic variants and risk scores, the results report
includes nutritional and lifestyle recommendations adapted to the person’s geneticprofile.

Nutri inCode test details
Nutri inCode test analyses 88 genetic variations in more than 60 genes related todifferent nutritional aspects. The test is performed in the laboratory of Ferrer
inCode.
The test is available with diagnostic package service (includes DNA extraction,genotyping, interpretation).
Turnaround Time:
4-6 weeksSpecimen Requirements:
2-4 ml of blood with anticoagulant EDTA
Send blood samples at room temperature. Blood samples can be preserved at
2-8°C before shipping. Blood samples are recommended not to freeze and not tostore longer than one week.
1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
Send DNA samples at room temperature or frozen. To avoid sample loss andcontamination, please use 0,5-2,0 ml screw cap tubes, tubes with safe lock lid or
wrap the caps of each microtube with parafilm.
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose
gel as a single band, showing no degradation, alongside with a quantitative DNAmarker.

Resistance to norovirus infections
Noroviruses are RNA viruses of the Caliciviridae family, and are also called“Norwalk-like” viruses. This virus causes approximately 90% of non-bacterial
epidemic outbreaks of gastroenteritis around the world. Norovirus affects people of
all ages. About 20% of the population is resistant to most norovirus infections. Suchindividuals are called non-secretors. Several polymorphisms in the FUT2 gene areassociated with non-secretor status and resistance to norovirus infection.
Indications for genetic testing:
1. Determination of resistance status to infection by the most common type ofnorovirus

Resistance to norovirus infections test details
RFLP (restriction fragment length polymorphism) based test detects the SNP(rs601338) in the FUT2 gene.
The test is available with genotyping service (includes genotyping, electronical copyof the results report) only.
Turnaround Time:
Genotyping service
1-2 weeksSpecimen Requirements:
2-4 ml of blood with anticoagulant EDTA
Send blood samples at room temperature. Blood samples can be preserved at
2-8°C before shipping. Blood samples are recommended not to freeze and not tostore longer than one week.
200 ng DNA in TE, AE or pure sterile water at 100-250 ng/µl
Send DNA samples at room temperature or frozen. To avoid sample loss andcontamination, please use 0,5-2,0 ml screw cap tubes, tubes with safe lock lid or
wrap the caps of each microtube with parafilm.
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose
gel as a single band, showing no degradation, alongside with a quantitative DNAmarker.
2 ml of saliva
Preferred saliva collection kits are Oragene®DNA and SalivaGene Collection
Module II.

Venous Thrombosis
The annual incidence of venous thrombosis ranges from approximately 1 to 3 per1000 people. Venous thrombosis events often occur when multiple risk factors,
including genetic and environmental, are present simultaneously. Acquired risk
factors of venous thrombosis are age, immobilization, surgery, trauma, malignancy,
myeloproliferative disorders, obesity, pregnancy, postpartum period, hormone
replacement therapy or use of oral contraceptives. Genetic risk factors are related
to a 30- to 80-fold higher risk for developing a thrombotic episode.
Indications for genetic testing:
1.
2.
3.
4.
5.
6.

Vein thrombosis before the age of 50
Recurrent vein thrombosis in family
Identified genetic variant for higher risk of venous thrombosis in family
For women in addition to the above named:
Myocardial infarction in 50-year-old women who are smoking
Vein thrombosis in the period of taking oral contraceptives
The presence of pregnancy complications, for example multiple miscarriages,preeclampsia and stillbirth.

Venous Thrombosis test details
RFLP-based test is carried out to determine the predisposing genetic factors forthrombosis such as the factor V Leiden mutation, the prothrombin G20210A
mutation, and mutations C677T andA1298C of the MTHFR gene.
The test is available with diagnostic package service (includes DNA extraction,genotyping, interpretation, hard copy of the results report).
Turnaround Time:
Diagnostic package service
Standard: 1-2 weeks
Specimen Requirements:
2-4 ml of blood with anticoagulant EDTA
Send blood samples at room temperature. Blood samples can be preserved at
2-8°C before shipping. Blood samples are recommended not to freeze and not tostore longer than one week.
300 ng DNA in TE, AE or pure sterile water at 100-250 ng/µl
Send DNA samples at room temperature or frozen. To avoid sample loss andcontamination, please use 0,5-2,0 ml screw cap tubes, tubes with safe lock lid orwrap the caps of each microtube with parafilm.
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose
gel as a single band, showing no degradation, alongside with a quantitative DNAmarker.