Genetic Tests for Neurological Disorders

Microbiome MINI involves molecular genetic diagnosis to identify all bacterial species inhabiting the intestinal tract. It covers over 250 parameters, used to determine biodiversity, condition and permeability of the intestinal mucosa, the formation of functional groups (equol, butyrate, histamine, hydrogen sulfide), parasites presence. Valuable information about a person's health and lifestyle can be obtained depending on the microbiome condition. 

Transthyretin amyloidosis (ATTR) is a multisystem disease characterized by amyloid deposits of the protein transthyretin in various tissues and organs. The disease is characterized by a variety of clinical manifestations, most commonly affecting the peripheral nervous system, autonomic nervous system, and heart. Pathological variants (mutations) in the TTR gene lead to the production of abnormal transthyretin and are the cause of the hereditary form of ATTR. Although the disease is rare, several mutations in the TTR gene have been found in Bulgaria, which occur with a higher frequency and are relatively well studied among patients in Bulgaria. The analysis of the TTR gene in patients with suspected transthyretin amyloidosis is essential for a timely and accurate diagnosing, prescribing correct and effective therapy, and determining the carrier in the family in case the diagnosis is confirmed.

The Microbiome MIDI genetic panel is an extension of Microbiome MINI panel and additional types of parasites (Giardia lamblia, Entamoeba histolytica, etc.) are included.

The Microbiome MAXI genetic panel is an extension of Microbiome MIDI panel and additional species of the genera Actinobacteria and Clostridia; Hydrogen sulfide producing bacteria and Oxalate - degrading bacteria are included.

Duchenne / Becker muscular dystrophy is an X-linked inherited neuromuscular disease that occurs primarily in boys. Muscular dystrophy, type Duchenne (DMD) is characterized by progressive degeneration and muscle weakness, usually beginning after the age of 3 years. The average life expectancy is 17 years. 

The muscular dystrophy, Becker type (BMD) is similar to DMD but has a later onset (during puberty or thereafter) and a milder clinical presentation. DMD / BMD are caused by mutations in the largest human gene - DMD, which is responsible for the production of the protein dystrophin. Most commonly, mutations are of the deletion type and involve one or more of the 79 coding exons of the gene. In much fewer cases, point mutations are detected. 

There is still no effective treatment, and the therapy is mainly symptomatic. The risk of giving birth to a boy with muscular dystrophy types Duchenne / Becker muscular dystrophy in a family in which the partner is a carrier is 50%. The only prevention is to perform a prenatal diagnosis.

Spinal muscular atrophy is an inherited condition due to a lack (so-called deletion) of a specific part of both copies of the SMN1 gene. Degeneration of motor neurons, muscle weakness and progressive disability are observed. There are several forms. Type 1 affects children in early childhood, and the outcome is lethal before their first year. Other types of SMA lead to severe disability and an unfavorable outcome at a later stage in the patient's life.

Treatment of SMA is symptomatic and includes mainly rehabilitation and special care by the parents of young patients. The new generation of gene therapy, recently introduced in Bulgaria, gives great hope to the affected families. Prior to its application the genetic analysis is mandatory to determine the number of copies of the SMN2 gene.

Official data on the frequency of SMA carriers in Bulgaria is not available, but according to published data it is 1/45 for Caucasians. Statistically, this is more than 150,000 people in the country.

The risk of giving birth to a child affected by spinal muscular atrophy in a family in which both partners are carriers is 25%.

Prevention includes carrier tests for relatives of the families with a child born with SMA, as well as prenatal diagnosis in the early months of pregnancy in affected families.

Vitamins play a key role in the proper performance of basic functions of the human body such as metabolism, immune defense, activity of the central and peripheral nervous systems, digestion, movement etc. Most vitamins are not synthesized in the human body but are taken with food as precursors of their active forms. Therefore, their proper absorption, transformation, use, and decomposition is important for maintaining the so-called vitamin balance.

The Vitamins Genetics Panel includes an analysis of genetic variants associated with predisposition to vitamin A, B, D, and K deficiencies. The results contain interpretation, clinical significance of proven variants, and recommendations that assist practitioners in making therapeutic decisions. Each patient receives guidelines for changing their diet, as well as for taking specific vitamins and minerals.

WES® detects pathological genetic variants in the whole protein coding sequence in the human genome. 

Vitamin B6 is an important factor in the formation of the red blood cells, the developing of nervous tissue, the detoxification processes, the DNA synthesis, the cell energy balance and the immune protection. It is also a key factor in the methylation processes that regulate the "unlocking" or "locking" of our genes. Methylation disorders can lead to elevated homocysteine levels, which are associated with a large number of diseases.

Vitamin B6 Genetic Panel includes analysis of genetic variants associated with faster degradation of vitamin B6 and systemically low bioavailability of its active form, called Pyridoxal-5-phosphate. The results contain interpretation, clinical significance of identified variants and recommendations to assist specialists in making therapeutic decisions.

Vitamin B12 is supplied only with food. It is a key factor in to the functioning of vital body processes, including the formation of red blood cells, DNA synthesis, normal nervous system function, digestion. If Vitamin B12 deficiency is not managed in time, it can lead to anemia, a number of gastrointestinal, neurological, oncological, and other diseases.

Vitamin B12 Genetic Panel includes analysis of genetic variants associated with disorders in the absorption of the vitamin in the small intestine, reduced transport to the liver and faster depletion of its active form.

The results contain interpretation, clinical significance of identified variants and recommendations to assist specialists in making therapeutic decisions.

A wide range of foods are naturally rich in histamine or release high levels of histamine during storage. Diamine oxidase (DAO) is an intestinal enzyme that normally destroys histamine contained in food. Therefore, even after consuming foods rich in histamine, no symptoms are observed. In carriers of genetic variants, DAO deficiency is observed, and undigested histamine is unnecessarily absorbed, exhibiting various symptoms.

Gastrointestinal symptoms: diarrhea, irritable bowel syndrome (IBS), chronic constipation, gas, stomach pain, vomiting.

Symptoms affecting the head and face: redness of the face and / or chest (a very common symptom), migraine-like headache, Quincke's edema (swelling that occurs mainly around the eyes and lips, sometimes in the throat).

Respiratory problems: asthma, stuffy nose and watery eyes.

Skin complaints: rash, eczema, urticaria, acne.

In women: dysmenorrhea. The symptoms of HIT disappear during pregnancy and return after birth.

Other symptoms: wheezing, sleep disorders, arrhythmia, mood swings - from fatigue to irritability and aggression.

 This test detects mutations in 20,000 genes associated with various hereditary conditions. It analyzes packages of target genes associated with specific conditions according to clinical diagnosis (Cancer Panel, Pediatric Panel, Diabetes Panel, Epilepsy Panel, Intellectual Deficiency/Autism Panel, Skeletal Dysplasias Panel, Cardiomyopathies Panel, etc.).