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Genetic tests

Human reproduction center «Clinic of prof. Feskov» provides examinations for of monogenic diseases carriage and chromosomal abnormalities.

Chromosomal abnormalities detection methods:

-                     Karyotype  (G,C banding)

-                     a-CGH (array comparative genome hybridization)

-                     NGS (next generation sequencing)

-                     FISH (fluorescent in situ hibridization) of sperm for 9, 13, 14, 16, 18, 21, X, Y chromosomes

Single gene disorders detection methods:

-                     PCR real-time

-                     CarrierMap*

-                     Unknown mutation detaction by sequencing of genome region

CarrierMap* is the most comprehensive and accurate genetic carrier screen for people of all ethnic backgrounds planning or early in pregnancy.

CarrierMap screens for over 250 genetic diseases, including Cystic Fibrosis, Spinal Muscular Atrophy, Sickle Cell Disease, and Tay-Sachs Disease. Many of the diseases included can shorten life expectancy and/or cause physical or cognitive impairment. 

Diseases mentiomed down are available to detect in embryo by PGD.

List of single gene disorders which providing in Human reproduction center «Clinic of prof. Feskov»:

Disease NameDisease Name

Quantity of Tested Mutations

11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

 

17-Alpha-Hydroxylase Deficiency

20

17-Beta-Hydroxysteroid Dehydrogenase Type III Deficiency

8

21-Hydroxylase-Deficient Congenital Classical Adrenal Hyperplasia

3

21-Hydroxylase-Deficient Congenital Nonclassical Adrenal Hyperplasia

2

3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency

6

3-Methylcrotonyl-CoA Carboxylase Deficiency: MCCC1 Related

2

3-Methylcrotonyl-CoA Carboxylase Deficiency: MCCC2 Related

8

3-Methylglutaconic Aciduria: Type 3

4

3-Phosphoglycerate Dehydrogenase Deficiency

7

5-Alpha Reductase Deficiency

10

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

6

Abetalipoproteinemia

2

Acrodermatitis Enteropathica

9

Acyl-CoA Oxidase I Deficiency

5

Adenosine Deaminase Deficiency

22

Adrenoleukodystrophy: X-Linked

24

Alkaptonuria

14

Alpha Thalassemia

10

Alpha-1-Antitrypsin Deficiency

4

Alpha-Mannosidosis

3

Alport Syndrome: COL4A3 Related

3

Alport Syndrome: COL4A4 Related

5

Alport Syndrome: X-linked

3

Amegakaryocytic Thrombocytopenia

23

Andermann Syndrome

5

Androgen Insensitivity Syndrome: Complete

18

Antley-Bixler Syndrome

4

Argininosuccinate Lyase Deficiency

7

Aromatase Deficiency

8

ARSACS

6

Arthrogryposis, Mental Retardation, & Seizures

2

Arts Syndrome

2

Aspartylglycosaminuria

8

Ataxia with Vitamin E Deficiency

14

Ataxia-Telangiectasia

21

Autosomal Recessive Polycystic Kidney Disease

39

Bardet-Biedl Syndrome: BBS1 Related

3

Bardet-Biedl Syndrome: BBS10 Related

3

Bardet-Biedl Syndrome: BBS11 Related

1

Bardet-Biedl Syndrome: BBS12 Related

5

Bardet-Biedl Syndrome: BBS2 Related

8

Bare Lymphocyte Syndrome: Type II

3

Bartter Syndrome: Type 4A

6

Beta Thalassemia

83

Beta-Hexosaminidase Pseudodeficiency

2

Beta-Ketothiolase Deficiency

19

Biotinidase Deficiency

37

Bloom Syndrome

24

Canavan Disease

8

Carnitine Palmitoyltransferase IA Deficiency

10

Carnitine Palmitoyltransferase II Deficiency

21

Carpenter Syndrome

2

Cartilage-Hair Hypoplasia

2

Cerebrotendinous Xanthomatosis

13

Charcot-Marie-Tooth Disease with Deafness: X-Linked: GJB1 Related

22

Charcot-Marie-Tooth Disease with Deafness: X-Linked: PRPS1 Related

2

Choreoacanthocytosis

1

Choroideremia

1

Chronic Granulomatous Disease: X-Linked

13

Citrullinemia: Type I

10

Classical Galactosemia

18

Cohen Syndrome

8

Combined Pituitary Hormone Deficiency: PROP1 Related

11

Congenital Disorder of Glycosylation: Type 1A: PMM2 Related

5

Congenital Disorder of Glycosylation: Type 1B: MPI Related

1

Congenital Disorder of Glycosylation: Type 1C: ALG6 Related

4

Congenital Lipoid Adrenal Hyperplasia

10

Congenital Neutropenia: Recessive

5

Copper Transport Disorders

6

Corneal Dystrophy and Perceptive Deafness

8

Corticosterone Methyloxidase Deficiency

3

Creatine Transporter Defect

6

Crigler-Najjar Syndrome

11

Cystic Fibrosis

146

Cystinosis

12

Cystinuria: Non-Type I

16

Cystinuria: Type I

10

D-Bifunctional Protein Deficiency

6

Diabetes: Recessive Permanent Neonatal

2

Du Pan Syndrome

5

Dyskeratosis Congenita: RTEL1 Related

5

Dystrophic Epidermolysis Bullosa: Recessive

10

Ehlers-Danlos Syndrome: Type VIIC

2

Ellis-van Creveld Syndrome: EVC Related

8

Ellis-van Creveld Syndrome: EVC2 Related

1

Emery-Dreifuss Myopathy: X-Linked

3

Enhanced S-Cone

4

Ethylmalonic Aciduria

3

Fabry's Disease

22

Factor II Deficiency

8

Factor IX Deficiency

7

Factor V Deficiency

3

Factor V Leiden Thrombophilia

1

Factor VIII Deficiency

34

Factor XI Deficiency

5

Familial Chloride Diarrhea

6

Familial Dysautonomia

4

Familial Hyperinsulinism: Type 1: ABCC8 Related

10

Familial Hyperinsulinism: Type 2: KCNJ11 Related

6

Familial Mediterranean Fever

12

Fanconi Anemia: Type A

10

Fanconi Anemia: Type C

8

Fanconi Anemia: Type G

5

Fanconi Anemia: Type J

1

Fragile X Syndrome

1

Fumarase Deficiency

1

Galactokinase Deficiency

7

Gaucher Disease

6

Gitelman Syndrome

8

Globoid Cell Leukodystrophy

10

Glucose-6-Phosphate Dehydrogenase Deficiency

7

Glutaric Acidemia: Type I

8

Glycine Encephalopathy: AMT Related

6

Glycine Encephalopathy: GLDC Related

5

Glycogen Storage Disease: Type IA

13

Glycogen Storage Disease: Type IB

5

Glycogen Storage Disease: Type II

12

Glycogen Storage Disease: Type III

14

Glycogen Storage Disease: Type IV

2

Glycogen Storage Disease: Type V

9

Glycogen Storage Disease: Type VII

4

GM1-Gangliosidoses

16

GRACILE Syndrome

11

Guanidinoacetate Methyltransferase Deficiency

4

Hemochromatosis: Type 2A: HFE2 Related

1

Hemochromatosis: Type 3: TFR2 Related

4

Hemoglobinopathy: Hb C

1

Hemoglobinopathy: Hb D

1

Hemoglobinopathy: Hb E

1

Hemoglobinopathy: Hb O

1

Hereditary Fructose Intolerance

10

Herlitz Junctional Epidermolysis Bullosa: LAMB3 Related

6

Herlitz Junctional Epidermolysis Bullosa: LAMC2 Related

1

Hermansky-Pudlak Syndrome: Type 1

1

Hermansky-Pudlak Syndrome: Type 3

5

HMG-CoA Lyase Deficiency

6

Holocarboxylase Synthetase Deficiency

7

Homocystinuria Caused by CBS Deficiency

7

Hunter Syndrome

7

Hurler Syndrome

8

Hypohidrotic Ectodermal Dysplasia: X-Linked

5

Hypophosphatasia

5

Inclusion Body Myopathy: Type 2

3

Isovaleric Acidemia

1

Joubert Syndrome

2

Juvenile Retinoschisis: X-Linked

15

Lamellar Ichthyosis: Type 1

1

Laryngoonychocutaneous Syndrome

1

Leber Amaurosis: CEP290 Related

1

Leber Amaurosis: GUCY2D Related

2

Leber Amaurosis: LCA5 Related

3

Leber Amaurosis: RDH12 Related

6

Leigh Syndrome: French-Canadian

1

Leydig Cell Hypoplasia (Luteinizing Hormone Resistance)

13

Limb-Girdle Muscular Dystrophy: Type 2A

6

Limb-Girdle Muscular Dystrophy: Type 2C

4

Limb-Girdle Muscular Dystrophy: Type 2D

1

Limb-Girdle Muscular Dystrophy: Type 2E

6

Limb-Girdle Muscular Dystrophy: Type 2F

5

Limb-Girdle Muscular Dystrophy: Type 2I

1

Lipoprotein Lipase Deficiency

1

Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

2

Lysinuric Protein Intolerance

4

Maple Syrup Urine Disease: Type 1A

3

Maple Syrup Urine Disease: Type 1B

6

Maple Syrup Urine Disease: Type 3

8

Meckel Syndrome: Type 1

5

Medium Chain Acyl-CoA Dehydrogenase Deficiency

8

Megalencephalic Leukoencephalopathy

5

Metachromatic Leukodystrophy

16

Methylmalonic Acidemia: MMAA Related

14

Methylmalonic Acidemia: MMAB Related

11

Methylmalonic Acidemia: MUT Related

22

Methylmalonic Aciduria and Homocystinuria: Type cblC

5

MTHFR Deficiency

2

MTHFR Deficiency: Severe

6

Mucolipidosis: Type II

3

Mucolipidosis: Type IV

4

Multiple Pterygium Syndrome

6

Multiple Sulfatase Deficiency

1

Muscle-Eye-Brain Disease

3

Myotubular Myopathy: X-Linked

9

Navajo Neurohepatopathy

1

Nemaline Myopathy: NEB Related

1

Nephrotic Syndrome: Type 1

5

Nephrotic Syndrome: Type 2

25

Neuronal Ceroid-Lipofuscinosis: CLN5 Related

7

Neuronal Ceroid-Lipofuscinosis: CLN6 Related

9

Neuronal Ceroid-Lipofuscinosis: CLN8 Related

4

Neuronal Ceroid-Lipofuscinosis: MFSD8 Related

2

Neuronal Ceroid-Lipofuscinosis: PPT1 Related

8

Neuronal Ceroid-Lipofuscinosis: TPP1 Related

9

Niemann-Pick Disease: Type A

6

Niemann-Pick Disease: Type B

3

Niemann-Pick Disease: Type C1

14

Niemann-Pick Disease: Type C2

11

Nonsyndromic Hearing Loss and Deafness: DFNB3 Related

9

Nonsyndromic Hearing Loss and Deafness: GJB2 Related

30

Oculocutaneous Albinism: Type 1

27

Oculocutaneous Albinism: Type 4

2

Omenn Syndrome

1

Ornithine Transcarbamylase Deficiency

11

Ornithine Translocase Deficiency

3

Pendred Syndrome

7

Persistent Mullerian Duct Syndrome: Type 1

5

Persistent Mullerian Duct Syndrome: Type 2

14

Phenylalanine Hydroxylase Deficiency

59

POLG Related Disorders: Autosomal Recessive

16

Polyglandular Autoimmune Syndrome: Type I

5

Primary Carnitine Deficiency

12

Primary Hyperoxaluria: Type 1

11

Primary Hyperoxaluria: Type 2

3

Primary Hyperoxaluria: Type 3

2

Progressive Cerebello Cerebral Atrophy: Type 2

2

Progressive Familial Intrahepatic Cholestasis: Type 2

5

Propionic Acidemia: PCCA Related

13

Propionic Acidemia: PCCB Related

13

Pseudocholinesterase Deficiency

1

Pycnodysostosis

2

Pyruvate Dehydrogenase Deficiency: Autosomal Recessive

2

Pyruvate Dehydrogenase Deficiency: X-Linked

4

Retinal Dystrophies: RLBP1 Related

1

Retinitis Pigmentosa: Autosomal Recessive: DHDDS Related

1

Rhizomelic Chondrodysplasia Punctata: Type I

7

Salla Disease

5

Sandhoff Disease

14

Sanfilippo Syndrome: Type A

11

Sanfilippo Syndrome: Type B

10

Sanfilippo Syndrome: Type C

13

Sanfilippo Syndrome: Type D

5

SCID: X-Linked

11

Short Chain Acyl-CoA Dehydrogenase Deficiency

5

Sickle-Cell Anemia

1

Sjogren-Larsson Syndrome

2

Smith-Lemli-Opitz Syndrome

49

Spinal Muscular Atrophy: SMN1 Linked

19

Stargardt Disease

18

Stuve-Wiedemann Syndrome

8

Sulfate Transporter-Related Osteochondrodysplasia

6

Tay-Sachs Disease

76

Tyrosine Hydroxylase Deficiency

1

Tyrosinemia: Type I

10

Usher Syndrome: Type 1B

14

Usher Syndrome: Type 1C

4

Usher Syndrome: Type 1D

15

Usher Syndrome: Type 1F

6

Usher Syndrome: Type 2A

22

Usher Syndrome: Type 3

5

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency

26

Walker-Warburg Syndrome

1

Werner Syndrome

6

Wilson Disease

16

Zellweger Spectrum Disorders: PEX1 Related

3

Zellweger Spectrum Disorders: PEX10 Related

2

Zellweger Spectrum Disorders: PEX2 Related

1

Zellweger Spectrum Disorders: PEX6 Related

8

Services
Чумакова Наталья Александровна

Natalia Chumakova

doctor obstetrician-gynecologist

Жилкова Евгения Станиславовна

Evgeniya Zhilkova

head of the genetic laboratory

Безпечная Ирина Михайловна

Irina Bezpechnaya

head of the IVF department

Егунькова Елена Владимировна

Elena Egunkova

labortory geneticist

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