Genica Genetic Tests for Neurological Disorders
Neurology

Genetic Tests for Neurological Disorders

An accurate diagnosis based on genetic tests is at the start for an effective treatment and management of many neurological disorders. As an invaluable tool, genetic testing allows the identification of inherited neurological conditions, such as mental retardation, neurodegeneration, learning disabilities, movement disorders and muscle control.

With the expansion of knowledge of genetic determinants, the progress in therapeutic interventions increases. To adapt the treatment to patient’s condition it is increasingly important to know his/her  specific genotype. 

DIAGNOSIS

  • Confirms the clinical diagnosis in a cost-effective, reliable and fast way
  • Reduces the need for more invasive procedures (e.g. muscle biopsies, lumbar puncture, EMG)

PROGNOSIS

  • Provides a better understanding of the clinical course and prognosis of the patient
  • Provides information on the risk to family members and the risk of recurrence for the patient

MANAGEMENT

  • Allows treatment tailored to the specific genotype of the patient and avoiding contraindicated drugs or procedures

THE TESTS ARE INDICATIVE IN:

Epileptic seizures and developmental disorders; Neurodegenerative disorders; Neuromuscular disorders; Neuropathies and related disorders; Traffic disorders; Cardiomyopathy and skeletal muscle diseases

Identification of All Bacterial Species in the Intestinal Tract

Microbiome MINI

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. 

Diagnostic Range: Feces condition; Biodiversity; Distribution of bacterial genera; Enterotype; Dysbiosis index; Most important bacterial genera and species: Bacteriodetes, Firmicutes, Actinobacteria, Proteobacteria (pathogenic or potentially pathogenic), Verrucomicrobia, Clostridia, Immunologically effective species, Yeast / Fungi and other forming functional groups (equol, butyrate, histamine, hydrogen sulfide).

Diagnostic Method: New generation sequencing and DNA quantification

Research Material: Feces

Results within: 15-20 business days

Fee: BGN 378

Clinical application

 Metabolic disorders; Intestinal inflammation (Crohn's disease); Intestinal tumors; Autism; Alzheimer's; Arthritis; Obesity 

Genetic Testing for Pathological Variants in the TTR Gene

Transthyretin Amyloidosis

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.

Diagnostic Range: TTR

Diagnostic Method: Sanger sequencing

Research Material: 6 ml venous blood / 2 ml peripheral blood

Results within: 10 business days

Fee: BGN 100 - single mutation analysis/ BGN 400 - whole gene analysis

Clinical application

 Transthyretin amyloidosis 

Determination of Bacterial Species and Parasites in the Intestinal Tract

Microbiome MIDI

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

Diagnostic Range: Feces condition; Biodiversity; Distribution of bacterial genera; Enterotype; Dysbiosis index; Most important bacterial genera and species: Bacteriodetes, Firmicutes, Actinobacteria, Proteobacteria (pathogenic or potentially pathogenic), Verrucomicrobia, Clostridia, Immunologically effective species, Yeast / Fungi and other forming functional groups (equol, butyrate, histamine, hydrogen sulfide); Additional types of parasites.

Diagnostic Method: New generation sequencing and DNA quantification

Research Material: Feces

Results within: 15-20 business days

Fee: BGN 459

Clinical application

 Metabolic disorders; Intestinal inflammation (Crohn's disease); Intestinal tumors; Autism; Alzheimer's; Arthritis; Obesity 

Determination of Bacterial Species and Parasites in the Intestinal Tract

Microbiome MAXI

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.

Diagnostic Range: Feces condition; Biodiversity; Distribution of bacterial genera; Enterotype; Dysbiosis index; Most important bacterial genera and species: Bacteriodetes, Firmicutes, Actinobacteria, Proteobacteria (pathogenic or potentially pathogenic), Verrucomicrobia, Clostridia, Immunologically effective species, Yeast / Fungi, and other forming functional groups (equol, butyrate, histamine, hydrogen sulfide); Additional types of parasites; Additional species of Actinobacteria, Clostridia; Additional species of hydrogen sulfide-producing bacteria; Oxalate - degrading bacteria

Diagnostic Method: New generation sequencing and DNA quantification

Research Material: Feces

Results within: 15-20 business days

Fee: BGN 507

Clinical application

Metabolic disorders; Intestinal inflammation (Crohn's disease); Intestinal tumors; Autism; Alzheimer's; Arthritis; Obesity

Genetic Testing for Hereditary Neuromuscular Diseases

Muscular Dystrophy, Duchenne Type (DMD) or Muscular Dystrophy, Becker Type (BMD)

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.

Diagnostic Range: DMD (Dystrophin)

Diagnostic Method: MLPA to search for deletions of exons of the DMD gene; Sanger sequencing to search for point mutations and small deletions in the DMD gene

Research Material: Venous or capillary blood with K2EDTA (purple tube)

Results within: 10 business days

Fee: BGN 800 - MLPA; BGN 3,200 - Sanger sequencing of the entire DMD gene

Clinical application

Confirmation of the clinical diagnosis; Carrier testing for females - maternal lineage relatives

Genetic Analysis for the Determination of SMN1 / SMN2 Copy Numbers

Spinal Muscular Atrophy (SMA)

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.

Diagnostic Range: SMN1 / SMN2

Diagnostic Method: MLPA for searching deletions of exons 7 and 8 of the SMN1 gene and determining the SMN2 gene copy numbers

Research Material: Venous blood with K2EDTA (purple tube)

Results within: 10 business days

Fee: BGN 800

Clinical application

Confirmation of clinical diagnosis; Carrier testing in unaffected family members; Determining of SMN2 gene copy numbers in patients with SMA in relation to the application of gene therapy

Vitamins Absorption

Vitamins

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.

Diagnostic Range: Absorption of vitamins A, B2, B6, B9 (folic acid), B12, D and K.

Diagnostic Method: Sanger sequencing/ RFLP

Research Material: 3-6 ml venous blood / 2 ml peripheral blood

Results within: 10 business days

Fee: BGN 710

Clinical application

Eating disorders; Metabolic disorders

Whole Exome Sequencing

WES®

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

Diagnostic Range: Approximately 20,000 genes

Diagnostic Method: NGS

Research Material: Venous blood in K2EDTA, DNA, CVS, amniotic cells, abortion material, tumor tissue

Results within: 3 months

Fee: BGN 3,800

Clinical application

Pathological genetic conditions

Impaired Vitamin B6 Absorption

Vitamin B6

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.

Diagnostic Range: Genetic variants associated with deficiency and faster degradation of Vitamin B6

Diagnostic Method: Sanger sequencing

Research Material: 3-6 ml venous blood / 2 ml peripheral blood

Results within: 10 business days

Fee: BGN 150

Clinical application

Metabolic disorders; Eating disorders

Predisposition to Vitamin B12 Deficiency

Vitamin B12

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.

Diagnostic Range: Absorption, transport and use of vitamin B12 in the body.

Diagnostic Method: Sanger sequencing/ RFLP

Research Material: 3-6 ml venous blood / 2 ml peripheral blood

Results within: 10 business days

Fee: BGN 280

Clinical application

Neurology; Hematology; Endocrinology; Gastroenterology; Psychiatry Anemia

Impaired Histamine Degradation

Histamine Intolerance

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.

Diagnostic Range: DAO; HNMT

Diagnostic Method: Sanger sequencing

Research Material: 3-6 ml venous blood / 2 ml peripheral blood

Results within: 10 business days

Fee: BGN 200

Clinical application

Histamine intolerance