Extraction of genomic DNA from blood samples
Carrier screening involves analyzing the DNA we extract from the blood. Each sample of extracted DNA undergoes internal quality control.
Carrier Seq
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30 000 ₽
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Available on credit
Carrier Seq
A test to detect an abnormal copy of an altered gene in a person that leads to the development of a genetic disease.
Free delivery
From anywhere in Russia
417 genes
Extensive screening panel
Consulting
Free consultation with a geneticist
Up to 25 working days
Timeframe
What are the risks of a couple passing on a genetic disease to their child?
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Approximately 1 out of every 200[1] couples in the general population is at risk of being carriers of an inherited genetic disease[2].
Carrier is a person who has a genetic variation in their DNA associated with the disease and might pass it on to the next generation.
An inherited genetic disease is a pathological condition of the body caused by an abnormality in a certain gene. The result of the abnormality in the DNA can range from asymptomatic to serious life-threatening health issues.
1 из 200The incidence of hereditary diseases in newborns is 1 in 200 [4].
6000hereditary diseases have been identified to date [3].
With a seemingly low incidence of genetic diseases, an average incidence of carriage of altered genes in healthy population is 1 per 20-50 people.
All inherited diseases are caused by changes in a specific gene and are known as monogenic or Mendelian disorders.
Types and Prevalence:
- fermentopathies;
- hearing and sight defects;
- skeletal dysplasias;
- various forms of mental retardation;
- lesions of the nervous system, endocrine system, connective-tissue, etc.
With the development of molecular genetic technology, couples planning to have children can learn more about their future family's health than ever before.
In many cases, parents are unaware that they are carriers, have no family history or symptoms of the disease.
Carrier screening is an important tool to help parents-to-be determine the risk of having a child with an inherited disease.
How are genetic diseases inherited?
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Most families that have a child with an inherited disease usually have no family history of that disease and no awareness of the increased risks of having a child with a genetic abnormality.
Each person is a carrier of a large number of gene variants, some of which are pathogenic. Thus, if both spouses are carriers of a pathological variant in the same gene, there is a high probability of a child being born with an inherited disease.
Example
When both partners are carriers of abnormal variations in a gene associated with the development of cystic fibrosis, the probabilities of passing the gene are:
25%the probability of a child having the disease
50%the probability of a child being a carrier of a pathogenic variant in the cystic fibrosis gene
25%probability of a child inheriting two healthy genetic copies and not being a carrier
Autosomal recessive genetic disorder occurs when both partners are carriers of a pathological copy of a certain gene. This means that for the clinical manifestation of the disease, the child must inherit two abnormal copies of the same gene (one altered copy from each parent).
If both parents are carriers of an altered copy of the same gene, they can pass to their child both the normal copy and the "defective" copy.
There are two main types of inheritancethat can lead to a healthy couple having a child with a genetic disease:
Autosomal recessive type
Autosomal means that the defective gene is located on any of the chromosomes other than the sex chromosomes (X or Y).
In this type of inheritance, each parent has 1 "abnormal copy of the gene" and 1 normal/functional copy of the gene, so the disease does not manifest, and the person is reffered to as a "healthy carrier".
The disease develops when each of the carrier parents passes a "pathological copy of the gene" to their child.
When two healthy carriers have a child, the risk of that child being born sick is 25%.
Examples of diseases:
- hereditary metabolic diseases (cystic fibrosis, phenylketonuria, adrenogenital syndrome, galactosemia, congenital hypothyroidism)
- spinal muscular atrophy
- sensorineural hearing loss
X-linked recessive type of inheritance
Sex-linked diseases are associated with the presence of defective genes on the sex chromosomes (X or Y).
The disease develops if the associated gene is found on the X chromosome. And, since boys have only one X chromosome, one altered copy of the gene is enough for them to develop the disease.
Therefore, if the carrier mother passed on a "dysfunctional copy of the gene" to her son, he will develop the disease. Sons never inherit their father's disease because fathers pass on their Y chromosome.
If a woman is a carrier of a pathological copy of a gene associated with the development of X-linked recessive disease, she will pass on the altered gene to 50% of her children, regardless of gender.
In this case, the risk of giving birth to a son with a disease is 25%, while both daughters are healthy, and one of them is a healthy carrier of the abnormal copy of the gene.
If the father is sick, all of his daughters are healthy, but are healthy carriers of the pathological copy of the gene.
Examples of diseases:
- X-linked adrenoleukodystrophy
- hemophilia A, B
- Duchenne muscular dystrophy
Couples who are carriers of recessive diseases in most cases do not have any clinical manifestations, and, unfortunately, often find out about their genetic status only after the birth of a child that has inherited abnormal copies of the gene and shows clinical manifestations of a certain disease.
To prevent a family from having a child with an inherited genetic disease, it is essential to test for the carrier of at least the most common gene variations during the pregnancy planning stage.
Living with a genetic disease
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Common to most hereditary genetic diseases is a significant reduction in the life expectancy of patients.
The vast majority of hereditary diseases are known to most often begin to manifest at a young age. The first symptoms of some diseases do not appear immediately, but a year or even several years into the normal development of the child.
About 30%of children do not live to the age of 5 [5]
Genetic diseases are largely untreatable, with only symptomatic therapy aimed at addressing clinical manifestations.
For some diseases there now exist fundamentally new methods of treatment based on genotherapy. But the cost of treatment for patients with hereditary diseases is very high.
Example
Spinal muscular atrophy is a severe hereditary neuromuscular disease that progresses very quickly: patients first lose the ability to walk, then to eat and even breathe. Half of children with SMA do not live to be two years old. For a long time, SMA was considered incurable and the diagnosis was a death sentence. But now a medication called Zolgensma has been developed, an ampule of which costs about 154 million rubles.
Скрининг на носительство генетических изменений
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Carrier screening is genetic testing designed to detect an abnormal copy of an altered gene in a person that leads to the development of a genetic disease.
Indications: healthy couples who are planning a pregnancy and want to know their carrier status to assess the likelihood of having a child with a genetic disease.
Everyone is eligible for testing, regardless of the presence or absence of family history of a particular genetic disease.
If spouses are found to be carriers of abnormal changes in the same gene responsible for the development of a genetic disease, they are referred for genetic counseling.
The doctor can
- determine the type of inheritance of the disease,
- explain the significance of received information for the development and health of the future child
- help choose the most effective way to prevent the detected disease and give birth to a healthy child.
It is possible to use assisted reproductive technologies with preimplantation genetic diagnosis (PGD) (PGT-M) to select embryos that do not carry abnormal gene copies.
Carriers of hereditary diseases who have a high risk of having a sick child can use alternatives, such as sperm or egg donors.
This test evaluates the most frequent gene variations associated with genetic diseases in a single procedure. It allows to significantly reduce the risk of giving birth to children with hereditary pathologies.
Carrier testing is a once in a lifetime procedure for you and your partner.
However, if you are identified as a carrier of certain abnormal genes and there is a new partner, they are advised to get tested, but only for the genes in which you have been found to have changes.
Recently, more and more data indicate the high efficiency of next generation sequencing (NGS) methods for identifying the genetic cause of certain groups of inherited diseases.
In our laboratory, the test is performed on a certified and registered F-Genetics platform.
First Genetics' laboratory test allows for simultaneous disease risk assessment for 417 syndromes.
Basic steps of the test
Amplification
This step involves the amplification (accumulation) of strictly defined DNA regions considered most important for disease recognition by polymerase chain reaction (PCR). The DNA fragments synthesized in this reaction are called amplicons.
Ion Semiconductor Sequencing
We then sequence each nucleotide in all PCR-derived and quality-controlled amplicons by next-generation sequencing (NGS).
All amplicons are labeled with identical DNA adapters, which are special sequences required for simultaneous sequencing of many different DNA fragments.
Test result
Special software and computer algorithms are used to detect changes in the DNA sequence. The data obtained are then interpreted by comparing the results with databases that list variants associated with genetic diseases.
Additional Information
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Human genetic or hereditary material consists of a chemical called DNA (deoxyribonucleic acid). Each strand of DNA consists of four types of nucleotides (adenine, thymine, cytosine, and guanine).
All human hereditary information (the genome) consists of three billion pairs of nucleotides. Genes are small pieces of DNA that contain all the information about how our body functions. Genes in the human body come in pairs.
The human genome contains about 20000 active genes.
The human genome is packaged in 23 pairs of chromosomes: 22 pairs of autosomal chromosomes and a pair of X and Y sex chromosomes (XX in women, XY in men). Thus, human somatic cells have 46 chromosomes, each containing hundreds of genes.
The sperm and egg contain only half of the somatic cell chromosomes, that is, 23 chromosomes each. During fertilization, when the egg and sperm combine, the two sets of chromosomes form pairs. As a result, one half of the child's genetic material comes from the mother and the other half from the father.
Each person is a carrier of a number of gene changes.
Changes in genes are commonly referred to as genetic variations. As a result of these rearrangements, sometimes a defective copy of a gene cannot perform its functions as intended.
Often a person who has just one copy of a defective gene is unaware of its presence because a second, normal copy of the gene compensates the function of the altered section of DNA. In the vast majority of cases, they will be a "healthy carrier". If abnormal gene copies are located in germ cells, they are passed on to offspring.
A carrier is a person who has one abnormal copy of a gene that doesn't work correctly, while the other copy is normal. The carrier may have no symptoms of the disease or show mild clinical symptoms.
However, each carrier has the risk of passing on an abnormal copy of the gene to the next generation, and the child of a couple where both parents are carries a defective copy of the same gene may be born with an inherited disease.
- Carrier
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A person without signs of the disease, but who has a risk of passing on an abnormal copy of the gene to the next generation.
- Carrier screening
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A test to find out whether or not a healthy person is a carrier of a recessive genetic disease.
- DNA
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Genetic material that is passed from parents to children. DNA is packaged in structures called chromosomes.
- Chromosomes
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Structures inside each cell of an organism. Chromosomes contain genes.
- Gene
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A piece of DNA that contains instructions for the formation of certain human characteristics and traits, as well as for the control of body processes. A gene is the basic unit of heredity and can be passed from parent to child.
- Somatic cells
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The cells that make up the body (soma) of multicellular organisms and do not participate in sexual reproduction.
- Polymerase Chain Reaction (PCR)
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An experimental molecular biology method that allows significant amplification of small concentrations of certain nucleic acid (NK) fragments in biological material.
- DNA library
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A set of DNA fragments subjected to sequencing. These DNA fragments are labeled with identical DNA adapters, which are special sequences required for simultaneous sequencing of many different DNA fragments.
- Sequencing
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Determination of the nucleotide sequence in DNA. Comparing the DNA sequence in a sample to a standard human sequence allows to determine if there is an abnormality in the sample.
- NGS (Next-Generation Sequencing, high throughput sequencing)
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A sequencing technology in which the DNA sequence is simultaneously read for a large number of short segments. These segments are then assembled on a computer to create a complete picture. This technology makes it possible to examine not just a single segment of DNA, but large fragments or even the entire genome in a short period of time.
1. Xiao Q., Lauschke V. M. The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders // NPJ genomic medicine. — 2021. — Т. 6. — №. 1.— С. 1-7 — URL: https://www.nature.com/articles/s41525-021-00203-x
2. Ropers H. H. On the future of genetic risk assessment // Journal of community genetics. — 2012. — Т. 3. — №. 3. — С. 229-236
3. Wakap S. N. et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database // European Journal of Human Genetics. — 2020. — Т. 28. — №. 2. — С. 165-173
4. Sateesh M. K. Bioethics and biosafety. — IK International Pvt Ltd, 2013
5. Angelis A., Tordrup D., Kanavos P. Socio-economic burden of rare diseases: a systematic review of cost of illness evidence // Health Policy. — 2015. — Т. 119. — №. 7. — С. 964-979
6. Novikov P. V. Legal aspects of rare (orphan) diseases in Russia and in the world //Medicine. - 2013. - T. 1. - №. 4. - p. 53-73
Метаболические и митохондриальные заболевания (117) ▼
| Gene | Заболевание |
|---|---|
| ABCB11 | Progressive Familial Intrahepatic Cholestasis, Type 2 |
| ABCB4 | Progressive Familial Intrahepatic Cholestasis, Type 3 |
| ACAD9 | Mitochondrial Complex I Deficiency, ACAD9-Related |
| ACADM | Medium Chain Acyl-CoA Dehydrogenase Deficiency |
| ACADS | Short Chain Acyl-CoA Dehydrogenase Deficiency |
| ACADSB | Short/branched chain acyl-CoA dehydrogenase |
| ACADVL | Very Long-Chain Acyl-CoA Dehydrogenase Deficiency |
| ACAT1 | Beta-Ketothiolase Deficiency |
| ACSF3 | Combined Malonic and Methylmalonic Aciduria |
| AGL | Glycogen Storage Disease, Type III (Cori/Forbes) |
| AGXT | Hyperoxaluria, Primary, Type 1 |
| ALDH3A2 | Sjogren-Larsson Syndrome |
| ALDH7A1 | Pyridoxine-dependent epilepsy |
| ALDOB | Hereditary Fructose Intolerance |
| ALG6 | Congenital Disorder of Glycosylation, Type 1C |
| AMT | Glycine Encephalopathy, AMT-Related |
| ARG1 | Argininemia |
| ASL | Argininosuccinate Lyase Deficiency |
| ASNS | Asparagine Synthetase Deficiency |
| ASPA | Canavan Disease |
| ASS1 | Citrullinemia, Type 1 |
| ATP7A | Menkes Syndrome, X-Linked |
| ATP7B | Wilson Disease |
| ATP8B1 | Progressive Familial Intrahepatic Cholestasis, Type 1 |
| BCHE | Pseudocholinesterase Deficiency |
| BCKDHA | Maple Syrup Urine Disease, Type 1A |
| BCKDHB | Maple Syrup Urine Disease, Type 1B |
| BCS1L | GRACILE Syndrome |
| BTD | Biotinidase Deficiency |
| CBS | Homocystinuria, CBS-Related |
| CPS1 | Carbamoyl Phosphate Synthetase I Deficiency |
| CPT1A | Carnitine Palmitoyltransferase IA Deficiency |
| CPT2 | Carnitine Palmitoyltransferase II Deficiency |
| CYP27A1 | Cerebrotendinous Xanthomatosis |
| DBT | Maple Syrup Urine Disease, Type 2 |
| DHCR7 | Smith-Lemli-Opitz Syndrome |
| DLD | Dihydrolipoamide Dehydrogenase Deficiency |
| DPYD | Dihydropyrimidine Dehydrogenase Deficiency |
| ETFA | Glutaric Acidemia, Type 2A |
| ETFB | Glutaric Acidemia, Type 2B |
| ETFDH | Glutaric Acidemia, Type 2C |
| ETHE1 | Ethylmalonic Encephalopathy |
| FAH | Tyrosinemia, Type I |
| FH | Fumarase Deficiency |
| G6PC | Glycogen Storage Disease, Type IA |
| GAA | Glycogen Storage Disease, Type II (Pompe Disease) |
| GALE | Galactose epimerase deficiency |
| GALK1 | Galactokinase Deficiency (Galactosemia, Type II) |
| GALNT3 | Hyperphosphatemic familial tumoral calcinosis |
| GALT | Galactosemia |
| GAMT | Guanidinoacetate Methyltransferase Deficiency |
| GBE1 | Glycogen Storage Disease, Type IV |
| GCDH | Glutaric Acidemia, Type 1 |
| GFM1 | Combined Oxidative Phosphorylation Deficiency 1 |
| GLDC | Glycine Encephalopathy, GLDC-Related |
| GRHPR | Primary Hyperoxaluria, Type 2 |
| HADHA | Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency |
| HADHB | Trifunctional protein deficiency |
| HGD | Alkaptonuria |
| HLCS | Holocarboxylase Synthetase Deficiency |
| HMGCL | 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency |
| HOGA1 | Primary Hyperoxaluria, Type 3 |
| HPD | Tyrosinemia, Type III |
| IVD | Isovaleric Acidemia |
| LDLR | Familial Hypercholesterolemia, LDLR-Related |
| LDLRAP1 | Familial Hypercholesterolemia, LDLRAP1-Related |
| LPL | Lipoprotein Lipase Deficiency |
| LRPPRC | Leigh Syndrome, French-Canadian Type |
| MAT1A | Hypermethioninemia |
| MCCC1 | 3-Methylcrotonyl-CoA Carboxylase 1 Deficiency |
| MCCC2 | 3-Methylcrotonyl-CoA Carboxylase 2 Deficiency |
| MLYCD | Malonyl-CoA decarboxylase deficiency |
| MMAA | Methylmalonic Aciduria, MMAA-Related |
| MMAB | Methylmalonic Aciduria, MMAB-Related |
| MMACHC | Methylmalonic Aciduria and Homocystinuria, Type cblC |
| MMADHC | Methylmalonic Aciduria and Homocystinuria, Type cblD |
| MOCS1 | Molybdenum cofactor deficiency |
| MPI | Congenital Disorder of Glycosylation, Type 1B |
| MPV17 | Hepatocerebral Mitochondrial DNA Depletion Syndrome, MPV17-Related |
| MTHFR | Homocystinuria due to Deficiency of MTHFR |
| MTRR | Homocystinuria, Type cblE |
| MTTP | Abetalipoproteinemia |
| MUT | Methylmalonic Aciduria, Type mut(0) |
| NAGS | N-acetylglutamate Synthase Deficiency |
| NDUFAF5 | Mitochondrial Complex I Deficiency, NDUFAF5-Related |
| NDUFS4 | Mitochondrial complex I deficiency |
| NDUFS6 | Mitochondrial Complex I Deficiency, NDUFS6-Related |
| OAT | Ornithine Aminotransferase Deficiency |
| OTC | Ornithine Transcarbamylase Deficiency |
| PAH | Phenylketonuria |
| PC | Pyruvate Carboxylase Deficiency |
| PCCA | Propionic Acidemia, PCCA-Related |
| PCCB | Propionic Acidemia, PCCB-Related |
| PDHA1 | Pyruvate Dehydrogenase Deficiency, X-Linked |
| PDHB | Pyruvate Dehydrogenase Deficiency, PDHB-Related |
| PEPD | Prolidase deficiency |
| PET100 | Cytochrome-c oxidase deficiency |
| PFKM | Glycogen Storage Disease, Type VII |
| PHGDH | Phosphoglycerate Dehydrogenase Deficiency |
| PMM2 | Congenital Disorder of Glycosylation, Type 1A, PMM2-Related |
| PNPO | Pyridoxal 5′-phosphate-dependent epilepsy |
| POLG | POLG-Related Disorders |
| PTS | 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency |
| SERPINA1 | Alpha-1-Antitrypsin Deficiency |
| SLC22A5 | Carnitine Deficiency |
| SLC25A13 | Citrullinemia, Type II |
| SLC25A15 | Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome |
| SLC25A20 | Carnitine-acylcarnitine translocase deficiency |
| SLC37A4 | Glycogen Storage Disease, Type IB |
| SLC7A7 | Lysinuric Protein Intolerance |
| SUCLA2 |
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) |
| SURF1 | Leigh Syndrome |
| TAT | Tyrosinemia, Type II |
| TRMU | Acute Infantile Liver Failure, TRMU-Related |
| TSFM | Combined Oxidative Phosphorylation Deficiency 3 |
| UGT1A1 | Crigler-Najjar Syndrome |
| UPB1 | Beta-ureidopropionase deficiency |
Лизосомные и пероксисомные заболевания (43) ▼
| Заболевание | Gene |
|---|---|
| Adrenoleukodystrophy, X-Linked | ABCD1 |
| Acyl-CoA Oxidase I Deficiency | ACOX1 |
| Aspartylglucosaminuria | AGA |
| Rhizomelic Chondrodysplasia Punctata, Type 3 | AGPS |
| Metachromatic Leukodystrophy, ARSA-Related | ARSA |
| Mucopolysaccharidosis, Type VI (Maroteaux-Lamy) | ARSB |
| Ceroid Lipofuscinosis, Neuronal, 10 (CLN10 Disease) | CTSD |
| Krabbe Disease | GALC |
| Mucopolysaccharidosis, Type IVA | GALNS |
| Gaucher Disease | GBA |
| Fabry Disease | GLA |
| Mucopolysaccharidosis, Type IVB / GM1 Gangliosidosis | GLB1 |
| Mucolipidosis II/IIIA | GNPTAB |
| Mucolipidosis III gamma | GNPTG |
| Mucopolysaccharidosis, Type IIID (Sanfilippo D) | GNS |
| Mucopolysaccharidosis, Type VII | GUSB |
| Tay-Sachs Disease | HEXA |
| Sandhoff Disease | HEXB |
| Mucopolysaccharidosis, Type IIIC (Sanfilippo C) | HGSNAT |
| D-Bifunctional Protein Deficiency | HSD17B4 |
| Mucopolysaccharidosis, Type II (Hunter Syndrome) | IDS |
| Mucopolysaccharidosis, Type I (Hurler Syndrome) | IDUA |
| Lysosomal Acid Lipase Deficiency | LIPA |
| Alpha-Mannosidosis | MAN2B1 |
| Mucolipidosis, Type IV | MCOLN1 |
| Ceroid Lipofuscinosis, Neuronal, 7 | MFSD8 |
| Mucopolysaccharidosis, Type IIIB (Sanfilippo B) | NAGLU |
| Sialidosis | NEU1 |
| Niemann-Pick Disease, Type C1/D | NPC1 |
| Niemann-Pick Disease, Type C2 | NPC2 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) | PEX1 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) | PEX10 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) | PEX12 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) | PEX2 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) | PEX6 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 | PEX7 |
| Ceroid Lipofuscinosis, Neuronal, 1 | PPT1 |
| Metachromatic Leukodystrophy, PSAP-Related | PSAP |
| Mucopolysaccharidosis, Type IIIA (Sanfilippo A) | SGSH |
| Salla Disease | SLC17A5 |
| Niemann-Pick Disease, Types A/B | SMPD1 |
| Multiple Sulfatase Deficiency | SUMF1 |
| Ceroid Lipofuscinosis, Neuronal, 2 | TPP1 |
Неврологические и нейромышечные (67) ▼
| Заболевание | Gene |
|---|---|
| Bilateral Frontoparietal Polymicrogyria | ADGRG1 |
| Ataxia-Telangiectasia | ATM |
| Limb-Girdle Muscular Dystrophy, Type 2A | CAPN3 |
| Mental retardation, autosomal recessive 3 | CC2D1A |
| Congenital Myasthenic Syndrome, CHRNE-Related | CHRNE |
| Escobar Syndrome | CHRNG |
| Ceroid Lipofuscinosis, Neuronal, 3 | CLN3 |
| Ceroid Lipofuscinosis, Neuronal, 5 | CLN5 |
| Ceroid Lipofuscinosis, Neuronal, 6 | CLN6 |
| Ceroid Lipofuscinosis, Neuronal, 8 (Northern Epilepsy) | CLN8 |
| Congenital Myasthenic Syndrome, DOK7-Related | DOK7 |
| Limb-Girdle Muscular Dystrophy, Type 2B | DYSF |
| Leukoencephalopathy with Vanishing White Matter | EIF2B5 |
| Dysautonomia, familial (IKBKAP or ELP1) | IKBKAP |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked | EMD |
| Cockayne syndrome, type B | ERCC6 |
| Cockayne syndrome, type A | ERCC8 |
| Pontocerebellar Hypoplasia, Type 1B | EXOSC3 |
| Limb-Girdle Muscular Dystrophy, Type 2I | FKRP gene |
| Walker-Warburg Syndrome, FKTN-Related | FKTN |
| Dopa-responsive dystonia | GCH1 |
| Lethal Congenital Contracture Syndrome 1 | GLE1 |
| Inclusion Body Myopathy 2 | GNE |
| LAMA2-related Muscular Dystrophy | LAMA2 |
| RETT Syndrome | MECP2 |
| Microcephaly, postnatal progressive, with seizures and brain atrophy | MED17 |
| Megalencephalic Leukoencephalopathy with Subcortical Cysts | MLC1 |
| Ataxia-telangiectasia-like disorder 1 | MRE11 |
| Myotubular Myopathy, X-Linked | MTM1 |
| Charcot-Marie-Tooth Disease type 4D | NDRG1 |
| Nemaline Myopathy, NEB-Related | NEB |
| Congenital Insensitivity to Pain with Anhidrosis (CIPA) | NTRK1 |
| Costeff Syndrome (3-Methylglutaconic Aciduria, Type 3) | OPA3 |
| Pantothenate Kinase-Associated Neurodegeneration | PANK2 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | PIGN |
| Infantile neuroaxonal dystrophy 1 | PLA2G6 |
| Muscle-Eye-Brain Disease, POMGNT1-Related | POMGNT1 |
| Myasthenic syndrome, congenital, 22 | PREPL |
| Arts syndrome, X-Linked | PRPS1 |
| Mitochondrial Myopathy and Sideroblastic Anemia (MLASA1) | PUS1 |
| Glycogen Storage Disease, Type V (McArdle Disease) | PYGM |
| Congenital Myasthenic Syndrome, RAPSN-Related | RAPSN |
| Pontocerebellar Hypoplasia, Type 1 and 6, RARS2-Related | RARS2 |
| Aicardi-Goutieres syndrome, RNASEH2C-related | RNASEH2C |
| Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay | SACS |
| Aicardi-Goutieres Syndrome | SAMHD1 |
| Pontocerebellar Hypoplasia, Type 2D | SEPSECS |
| Limb-Girdle Muscular Dystrophy, Type 2D | SGCA |
| Limb-Girdle Muscular Dystrophy, Type 2E | SGCB |
| Limb-Girdle Muscular Dystrophy, Type 2F | SGCD |
| Limb-Girdle Muscular Dystrophy, Type 2C | SGCG |
| Agenesis of the Corpus Callosum with Peripheral Neuropathy (Andermann Syndrome) | SLC12A6 |
| Autism Spectrum, Epilepsy and Arthrogryposis | SLC35A3 |
| Creatine Transporter Defect (Cerebral Creatine Deficiency Syndrome 1, X-Linked) | SLC6A8 |
| Spinal Muscular Atrophy | SMN1 |
| GM3 synthase deficiency | ST3GAL5 |
| Hereditary Spastic Paraparesis, Type 49 | TECPR2 |
| Segawa Syndrome, TH-Related | TH |
| Aicardi-Goutieres syndrome, TREX1-related | TREX1 |
| Pontocerebellar hypoplasia | TSEN54 |
| Ataxia with Vitamin E Deficiency | TTPA |
| Myoneurogastrointestinal Encephalopathy (MNGIE) | TYMP |
| Choreo-acanthocytosis | VPS13A |
| Cohen Syndrome | VPS13B |
| Pontocerebellar Hypoplasia, Type 2E | VPS53 |
| Pontocerebellar Hypoplasia, Type 1A | VRK1 |
| Spastic Paraplegia Type 15 | ZFYVE26 |
Зрение (20) ▼
| Заболевание | Gene |
|---|---|
| Stargardt Disease, Type 1 | ABCA4 |
| Leber Congenital Amaurosis, Type CEP290 | CEP290 |
| Retinitis Pigmentosa 26 | CERKL |
| Choroideremia, X-Linked | CHM |
| Achromatopsia, CNGA3-Related | CNGA3 |
| Achromatopsia, CNGB3-Related | CNGB3 |
| Leber congenital amaurosis 8 | CRB1 |
| Primary Congenital Glaucoma | CYP1B1 |
| Retinitis Pigmentosa 59 | DHDDS |
| Retinitis Pigmentosa 25 | EYS |
| Retinitis Pigmentosa 28 | FAM161A |
| Leber congenital amaurosis 1 | GUCY2D |
| Leber Congenital Amaurosis, Type LCA5 | LCA5 |
| Enhanced S-Cone Syndrome | NR2E3 |
| Leber Congenital Amaurosis, Type RDH12 | RDH12 |
| Retinal Dystrophies, RLBP1-Associated | RLBP1 |
| Leber Congenital Amaurosis 2 | RPE65 |
| Juvenile Retinoschisis, X-Linked | RS1 |
| Corneal Dystrophy and Perceptive Deafness | SLC4A11 |
| Microphthalmia/Anophthalmia, VSX2-Related | VSX2 |
Слух (14) ▼
| Заболевание | Gene |
|---|---|
| Usher Syndrome, Type 1D | CDH23 |
| Usher Syndrome, Type 3 | CLRN1 |
| Charcot-Marie-Tooth Disease with Deafness, X-Linked | GJB1 |
| Non-Syndromic Hearing Loss (Connexin 26) | GJB2 |
| Non-Syndromic Hearing Loss (Connexin 30) | GJB6 |
| Deafness, Autosomal Recessive 77 | LOXHD1 |
| Deafness, autosomal recessive, 3 | MYO15A |
| Usher Syndrome, Type 1B | MYO7A |
| Usher Syndrome, Type 1F | PCDH15 |
| Pendred Syndrome | SLC26A4 |
| Deafness, autosomal recessive 16 | STRC |
| Deafness, autosomal dominant 36, autosomal recessive 7 | TMC1 |
| Usher Syndrome, Type 1C | USH1C |
| Usher Syndrome, Type 2A | USH2A |
Эндокринные (20) ▼
| Заболевание | Gene |
|---|---|
| Familial Hyperinsulinism, ABCC8-Related | ABCC8 |
| Autoimmune polyendocrinopathy syndrome, type I | AIRE |
| Congenital Adrenal Hyperplasia, 11-beta-hydroxylase-deficient | CYP11B1 |
| Corticosterone Methyloxidase Deficiency | CYP11B2 |
| Congenital Adrenal Hyperplasia, 17-Alpha-Hydroxylase Deficiency | CYP17A1 |
| Aromatase Deficiency | CYP19A1 |
| Congenital Adrenal Hyperplasia, 21-hydroxylase-deficient | CYP21A2 |
| Vitamin D-dependent rickets type 1A | CYP27B1 |
| Wolcott-Rallison Syndrome | EIF2AK3 |
| Isolated growth hormone deficiency, Type IA/II | GH1 |
| Isolated growth hormone deficiency, Type IB | GHRHR |
| 3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency | HSD3B2 |
| Congenital Hyperinsulinism, KCNJ11-Related | KCNJ11 |
| Congenital Adrenal Hypoplasia, X-linked | NR0B1 |
| Cytochrome P450 oxidoreductase deficiency | POR |
| Combined Pituitary Hormone Deficiency 2 | PROP1 |
| Lipoid Congenital Adrenal Hyperplasia | STAR |
| Congenital hypothyroidism | TPO |
| Congenital hypothyroidism | TSHB |
| Hypothyroidism, congenital, nongoitrous, 1 | TSHR |
Гематология (25) ▼
| Заболевание | Gene |
|---|---|
| Alpha-Thalassemia Intellectual Disability Syndrome, X-Linked | ATRX |
| Fanconi anemia, Group J | BRIP1 |
| Dyskeratosis congenita, X-Linked | DKC1 |
| Factor XI deficiency | F11 |
| Prothrombin deficiency | F2 |
| Hemophilia A | F8 |
| Hemophilia B | F9 |
| Fanconi Anemia, Group A | FANCA |
| Fanconi Anemia, Group C | FANCC |
| Fanconi Anemia, Group G | FANCG |
| Glucose-6-Phosphate Dehydrogenase Deficiency | G6PD |
| Bernard-Soulier Syndrome, Type A2 | GP1BA |
| Bernard-Soulier Syndrome, Type B | GP1BB |
| Bernard-Soulier Syndrome, Type C | GP9 |
| Beta-Hemoglobinopathies | HBB |
| Hemochromatosis, Type 1 | HFE |
| Hemochromatosis, Type 2A | HFE2 |
| Heme Oxygenase-1 Deficiency | HMOX1 |
| Glanzmann thrombasthenia | ITGB3 |
| Congenital Amegakaryocytic Thrombocytopenia | MPL |
| Dyskeratosis Congenita, RTEL1-Related | RTEL1 |
| Shwachman-Diamond syndrome | SBDS |
| Megaloblastic Anemia Syndrome | SLC19A2 |
| Hemochromatosis, Type 3, TFR2-Related | TFR2 |
| Von Willebrand disease | VWF |
Соединительная ткань / кожа / скелет (45) ▼
| Заболевание | Gene |
|---|---|
| Harlequin ichthyosis | ABCA12 |
| Pseudoxanthoma elasticum | ABCC6 |
| Ehlers-Danlos Syndrome, Type VIIC | ADAMTS2 |
| Hypophosphatasia, ALPL-Related | ALPL |
| Desbuquois dysplasia 1 | CANT1 |
| Fibrochondrogenesis type 2 | COL11A2 |
| Dystrophic Epidermolysis Bullosa, COL7A1-Related | COL7A1 |
| Papillon-Lefevre Syndrome | CTSC |
| Pycnodysostosis | CTSK |
| Xeroderma Pigmentosum Group E | DDB2 |
| Hypohidrotic Ectodermal Dysplasia, X-Linked | EDA |
| Hypohidrotic Ectodermal Dysplasia | EDAR |
| Xeroderma Pigmentosum Group D | ERCC2 |
| Xeroderma Pigmentosum Group B | ERCC3 |
| Xeroderma Pigmentosum Group F | ERCC4 |
| Xeroderma pigmentosum Group G | ERCC5 |
| Roberts Syndrome | ESCO2 |
| Ellis-van Creveld Syndrome, EVC-Related | EVC |
| Ellis-van Creveld Syndrome, EVC2-related | EVC2 |
| Grebe syndrome | GDF5 |
| Erythrokeratodermia variabilis et progressiva | GJB3 |
| Geroderma osteodysplastica | GORAB |
| Hermansky-Pudlak Syndrome 1 | HPS1 |
| Hermansky-Pudlak Syndrome 3 | HPS3 |
| Hermansky-Pudlak syndrome 4 | HPS4 |
| Herlitz Junctional Epidermolysis Bullosa, LAMA3-Related | LAMA3 |
| Herlitz Junctional Epidermolysis Bullosa, LAMB3-Related | LAMB3 |
| Herlitz Junctional Epidermolysis Bullosa, LAMC2-Related | LAMC2 |
| Stuve-Wiedemann Syndrome | LIFR |
| Woolly Hair/Hypotrichosis Syndrome | LIPH |
| Spondylothoracic Dysostosis, MESP2-Related | MESP2 |
| Xeroderma pigmentosum Variant | POLH |
| Carpenter Syndrome | RAB23 |
| Cartilage-Hair Hypoplasia | RMRP |
| Achondrogenesis, Type 1B | SLC26A2 |
| Acrodermatitis Enteropathica | SLC39A4 |
| Oculocutaneous albinism, Type 4 | SLC45A2 |
| Osteopetrosis, Infantile Malignant, TCIRG1-Related | TCIRG1 |
| Lamellar Ichthyosis, Type 1 | TGM1 |
| Oculocutaneous Albinism, Type 1 | TYR |
| Oculocutaneous albinism, Type 3 | TYRP1 |
| Progressive Pseudorheumatoid Dysplasia | WISP3 |
| Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz-Passarge Syndrome | WNT10A |
| Xeroderma pigmentosum Group A | XPA |
| Xeroderma Pigmentosum Group C | XPC |
Иммунодефициты (16) ▼
| Заболевание | Gene |
|---|---|
| Severe Combined Immunodeficiency, ADA-Related | ADA |
| Isolated growth hormone deficiency, Type III, X-linked | BTK |
| Bare Lymphocyte Syndrome, CIITA-Related | CIITA |
| Chronic Granulomatous Disease, CYBA-Related | CYBA |
| Chronic Granulomatous Disease, X-Linked | CYBB |
| Severe Combined Immunodeficiency, Type Athabaskan | DCLRE1C |
| Congenital Neutropenia, HAX1-Related | HAX1 |
| Severe Combined Immunodeficiency, X-Linked | IL2RG |
| Chediak-Higashi syndrome | LYST |
| Familial Mediterranean Fever | MEFV |
| Nijmegen Breakage Syndrome | NBN |
| Omenn Syndrome, RAG1-Related | RAG1 |
| Omenn Syndrome, RAG2-Related | RAG2 |
| Schimke Immunoosseous Dysplasia | SMARCAL1 |
| Congenital Neutropenia, VPS45-Related | VPS45 |
| Wiskott-Aldrich syndrome, X-Linked | WAS |
Почки и электролиты (15) ▼
| Заболевание | Gene |
|---|---|
| Familial Nephrogenic Diabetes Insipidus, AQP2-Related | AQP2 |
| Renal Tubular Acidosis and Deafness, ATP6V1B1-Related | ATP6V1B1 |
| Bartter syndrome, Type 4a | BSND |
| Alport Syndrome, COL4A3-Related | COL4A3 |
| Alport Syndrome, COL4A4-Related | COL4A4 |
| Alport Syndrome, X-Linked | COL4A5 |
| Cystinosis | CTNS |
| Juvenile Nephronophthisis | NPHP1 |
| Congenital Finnish Nephrosis | NPHS1 |
| Steroid-Resistant Nephrotic Syndrome | NPHS2 |
| Lowe syndrome, X-Linked | OCRL |
| Polycystic Kidney Disease, Autosomal Recessive | PKHD1 |
| Gitelman Syndrome | SLC12A3 |
| Cystinuria, Type A | SLC3A1 |
| Cystinuria, Type B | SLC7A9 |
Репродуктивные (7) ▼
| Заболевание | Gene |
|---|---|
| Persistent Müllerian duct syndrome type 1 | AMH |
| Persistent Müllerian duct syndrome type 2 | AMHR2 |
| Androgen insensitivity syndrome, X-Linked | AR |
| 17-beta hydroxysteroid dehydrogenase 3 deficiency | HSD17B3 |
| Leydig cell hypoplasia | LHCGR |
| Hydatidiform Mole, Recurrent | NLRP7 |
| 5-alpha reductase deficiency | SRD5A2 |
Прочие редкие синдромы (28) ▼
| Заболевание | Gene |
|---|---|
| Achalasia-Addisonianism-Alacrima Syndrome | AAAS |
| Alstrom Syndrome | ALMS1 |
| MEDNIK syndrome | AP1S1 |
| Bardet-Biedl Syndrome 1 | BBS1 |
| Bardet-Biedl Syndrome 10 | BBS10 |
| Bardet-Biedl Syndrome 12 | BBS12 |
| Bardet-Biedl Syndrome 2 | BBS2 |
| Bardet-Biedl Syndrome 4 | BBS4 |
| Bardet-Biedl Syndrome 9 | BBS9 |
| Bloom Syndrome | BLM |
| Catecholaminergic polymorphic ventricular tachycardia | CASQ2 |
| Cystic Fibrosis | CFTR |
| Ciliary Dyskinesia, Primary 3 | DNAH5 |
| Ciliary Dyskinesia, Primary 1 | DNAI1 |
| Ciliary Dyskinesia, Primary 9 | DNAI2 |
| Ciliary Dyskinesia, Primary, 16 | DNAL1 |
| Hydrolethalus Syndrome | HYLS1 |
| Bardet-Biedl Syndrome 6 | MKKS |
| Meckel-Gruber Syndrome, Type 1 | MKS1 |
| Ciliopathies, RPGRIP1L-Related | RPGRIP1L |
| MIRAGE syndrome | SAMD9 |
| Congenital Chloride Diarrhea | SLC26A3 |
| Joubert Syndrome 2 / Meckel Syndrome 2 | TMEM216 |
| Bardet-Biedl syndrome 11 | TRIM32 |
| Mulibrey nanism syndrome | TRIM37 |
| Tricho-Hepato-Enteric Syndrome | TTC37 |
| Familial dilated cardiomyopathy | TTN |
| Werner Syndrome | WRN |
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1
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2
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3
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4
5
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