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Seznam klinických jednotek spojených s mutacemi genů vyšetřovaných CarrierMap testem

Choroba/Počet vyšetřovaných mutací

11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia/1

17-Alpha-Hydroxylase Deficiency/20

17-Beta-Hydroxysteroid Dehydrogenase Deficiency/8

21-Hydroxylasa-Deficientní Klasická Adrenální Hyperplasie/1

21-Hydroxylase-Deficient Nonclassical Congenital Adrenal Hyperplasia/1

3-Beta-Hydroxysteroid Dehydrogenase Deficiency/6

3-Methylcrotonyl-CoA Carboxylase Deficiency: MCCA Related/2

3-Methylcrotonyl-CoA Carboxylase Deficiency: MCCB Related/8

3-Methylglutaconic Aciduria: Type 3 /5

3-Phosphoglycerate Dehydrogenase Deficiency /7

5-Alpha Reductase Deficiency /10

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency /6

Abetalipoproteinemia/2

Acrodermatitis Enteropathica/8

Acute Infantile Liver Failure: TRMU Related/5

Acyl-CoA Oxidase I Deficiency/5

Adenosine Deaminase Deficiency/22

Adrenoleukodystrophy: X-Linked/21

Alkaptonuria/14

Alpha Thalassemia/9

Alpha-1-Antitrypsin Deficiency/4

Alpha-Mannosidosis/3

Alport Syndrome/3

Amegakaryocytic Thrombocytopenia/5

Andermann Syndrome/3

Androgen Insensitivity Syndrome: Complete/23

Antley-Bixler Syndrome /5

Argininemia/15

Argininosuccinate Lyase Deficiency/4

Aromatase Deficiency /12

ARSACS/ 7

Arthrogryposis, Mental Retardation, & Seizures /10

Arts Syndrome/6

Asparagine Synthetase Deficiency/2

Aspartylglycosaminuria/2

Ataxia with Vitamin E Deficiency  /1

Ataxia-Telangiectasia/8

Autosomal Recessive Polycystic Kidney Disease /14

Bardet-Biedl Syndrome/20

Bare Lymphocyte Syndrome: Type II /39

Bartter Syndrome: Type 4A    / 3

Beta Thalassemia  / 3

Beta-Hexosaminidase Pseudodeficiency  /1

Beta-Ketothiolase Deficiency /5

Biotinidase Deficiency  /8

Bloom Syndrome  /3

Canavan Disease                                                                                    6

Carnitine Palmitoyltransferase Deficiency                                                    83

Carnitine-Acylcarnitine Translocase Deficiency                                             2

Carpenter Syndrome                                                                               19

Cartilage-Hair Hypoplasia                                                                        37

Cerebrotendinous Xanthomatosis                                                              24

Charcot-Marie-Tooth Disease with Deafness                                                8

Chediak-Higashi Syndrome                                                                      10

Cholesteryl Ester Storage Disease                                                             7

Choreoacanthocytosis                                                                             2

Choroideremia                                                                                       2

Chronic Granulomatous Disease                                                                13

Citrin Deficiency                                                                                     22

Citrullinemia: Type I                                                                               2

Classical Galactosemia                                                                            3

Cockayne Syndrome                                                                               4

Cohen Syndrome                                                                                    1

Combined Pituitary Hormone Deficiency: PROP1 Related                               1

Congenital Disorder of Glycosylation                                                          6

Congenital Ichthyosis: ABCA12 Related                                                      14

Congenital Insensitivity to Pain with Anhidrosis                                            8

Congenital Lipoid Adrenal Hyperplasia                                                        10

Congenital Myasthenic Syndrome                                                              18

Congenital Neutropenia: Recessive                                                            2

Copper Transport Disorders                                                                      8

Corneal Dystrophy and Perceptive Deafness                                                8

Corticosterone Methyloxidase Deficiency                                                    11

Crigler-Najjar Syndrome                                                                          5

Cystická Fibrosa                                                                                     6

Cystinosis                                                                                             11

Cystinuria

D-Bifunctional Protein Deficiency                                                               11

Du Pan Syndrome                                                                                   7

Dyskeratosis Congenita: RTEL1 Related                                                      5

Dystrophic Epidermolysis Bullosa: Recessive                                               5

Ehlers-Danlos Syndrome: Type VIIC                                                          9

Ellis-van Creveld Syndrome                                                                      8

Emery-Dreifuss Myopathy: X-Linked                                                          3

Enhanced S-Cone                                                                                   11

Ethylmalonic Aciduria                                                                              4

Fabry’s Disease                                                                                      4

 

Factor IX Deficiency                                                                                22

Factor VIII Deficiency                                                                              7

Familial Chloride Diarrhea                                                                        34

Familial Dysautonomia                                                                            6

Familial Hyperinsulinism                                                                          4

Familial Mediterranean Fever                                                                    10

Fanconi Anemia                                                                                      6

Fragile X Syndrom                                                                                  12

Fumarase Deficiency                                                                               10

Galactokinase Deficiency                                                                         8

Gaucher Disease                                                                                    5

Gitelman Syndrome                                                                                1

Globoid Cell Leukodystrophy                                                                    1

Glucose-6-Phosphate Dehydrogenase Deficiency                                          1

Glutaric Acidemia                                                                                   7

Glycine Encephalopathy                                                                           6

Glycogen Storage Disease                                                                        8

GM1-Gangliosidoses                                                                               10

GRACILE Syndrome                                                                                7

Guanidinoacetate Methyltransferase Deficiency                                            8

Hemochromatosis                                                                                   5

Hemoglobinopathy                                                                                  2

Hereditary Fructose Intolerance                                                                8

Hereditary Spastic Paraplegia: TECPR2 Related                                            6

Herlitz Junctional Epidermolysis Bullosa                                                      5

Hermansky-Pudlak Syndrome                                                                   13

HMG-CoA Lyase Deficiency                                                                       5

Holocarboxylase Synthetase Deficiency                                                      12

Homocystinuria Caused by CBS Deficiency                                                  14

Hunter Syndrome                                                                                   2

Hurler Syndrome                                                                                    9

Hypohidrotic Ectodermal Dysplasia: X-Linked                                              4

Hypophosphatasia                                                                                  17

Inclusion Body Myopathy: Type 2                                                              12

Infantile Cerebral and Cerebellar Atrophy                                                   4

Isolated Microphthalmia: VSX2 Related                                                      1

Isovaleric Acidemia                                                                                 4

Joubert Syndrome                                                                                  1

Juvenile Retinoschisis: X-Linked                                                                1

Lamellar Ichthyosis: Type 1                                                                     1

Laryngoonychocutaneous Syndrome                                                          1

Leber Congenital Amaurosis                                                                     10

Leigh Syndrome: French-Canadian                                                            1

Leukoencephalopathy with Vanishing White Matter: EIF2B5 Related                1

Leydig Cell Hypoplasia (Luteinizing Hormone Resistance)                              6

Limb-Girdle Muscular Dystrophy                                                                1

Lipoprotein Lipase Deficiency                                                                    1

 

Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency                            4

Lowe Oculocerebrorenal Syndrome                                                            7

Lysinuric Protein Intolerance                                                                    7

Malonyl-CoA Decarboxylase Deficiency                                                       7

Maple Syrup Urine Disease                                                                       8

Maroteaux-Lamy Syndrome                                                                     7

Meckel Syndrome: Type 1                                                                        8

Medium-Chain Acyl-CoA Dehydrogenase Deficiency                                      5

Megalencephalic Leukoencephalopathy                                                       5

Metachromatic Leukodystrophy                                                                 3

Methylmalonic Acidemia                                                                          1

Methylmalonic Aciduria and Homocystinuria: Type cblC                                 4

Mitochondrial Complex I Deficiency: NDUFS6 Related                                   1

Mitochondrial DNA Depletion Syndrome: MNGIE Type                                   2

Mitochondrial Myopathy and Sideroblastic Anemia                                        15

Mitochondrial Trifunctional Protein Deficiency: HADHB Related                       1

Morquio Syndrome                                                                                 1

MTHFR Deficiency: Severe                                                                       6

Mucolipidosis: Type II/III                                                                         3

Mucolipidosis: Type IV                                                                             5

Multiple Pterygium Syndrome                                                                   6

Multiple Sulfatase Deficiency                                                                    1

Muscle-Eye-Brain Disease                                                                        3

Myotubular Myopathy: X-Linked                                                                20

Navajo Neurohepatopathy                                                                        1

Nemaline Myopathy: NEB Related                                                              1

Nephrotic Syndrome                                                                               5

Neuronal Ceroid-Lipofuscinosis:                                                                26

Niemann-Pick Disease                                                                             7

Nijmegen Breakage Syndrome                                                                  9

Nonsyndromic Hearing Loss and Deafness                                                  4

Oculocutaneous Albinism                                                                         2

Omenn Syndrome: DCLRE1C Related                                                         8

Ornithine Transcarbamylase Deficiency                                                      9

Ornithine Translocase Deficiency                                                               6

Osteopetrosis: TCIRG1 Related                                                                 3

Papillon-Lefevre Syndrome                                                                      14

Pendred Syndrome                                                                                 11

Persistent Mullerian Duct Syndrome                                                           1

Phenylketonurie                                                                                     30

POLG Related Disorders: Autosomal Recessive                                             2

Polyglandular Autoimmune Syndrome: Type I                                             9

Pontocerebellar Hypoplasia                                                                      27

Primary Carnitine Deficiency                                                                     6

Primary Ciliary Dyskinesia                                                                        2

Primary Congenital Glaucoma                                                                   1

Primary Hyperoxaluria                                                                            11

Progressive Familial Intrahepatic Cholestasis: Type 2                                    3

Propionic Acidemia                                                                                 6

Pseudocholinesterase Deficiency                                                               11

Pycnodysostosis                                                                                     7

Pyruvate Carboxylase Deficiency                                                               6

Pyruvate Dehydrogenase Deficiency                                                          14

Renal Tubular Acidosis and Deafness                                                         59

Retinal Dystrophies                                                                                16

Retinitis Pigmentosa                                                                               5

Rhizomelic Chondrodysplasia Punctata: Type I                                             4

Salla Disease                                                                                         3

Sandhoff Disease                                                                                    1

Sanfilippo Syndrome                                                                               3

SCID: X-Linked                                                                                      2

Short-Chain Acyl-CoA Dehydrogenase Deficiency                                         2

Sickle-Cell Anemia                                                                                  12

Sjogren-Larsson Syndrome                                                                      4

Sly Syndrome                                                                                        4

Smith-Lemli-Opitz Syndrome                                                                    9

Spinal Muscular Atrophy: SMN1 Linked                                                      11

Stargardt Disease                                                                                   3

Stuve-Wiedemann Syndrome                                                                   2

Sulfate Transporter-Related Osteochondrodysplasia                                      5

Tay-Sachs Disease                                                                                 13

Trichohepatoenteric Syndrome: Type 1                                                      13

Tyrosine Hydroxylase Deficiency                                                               1

Tyrosinemia: Type I                                                                                2

Tyrosinemia: Type II                                                                              15

Usher Syndrome                                                                                    2

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency                                   4

Walker-Warburg Syndrome                                                                      5

Werner Syndrome                                                                                  3

Wilson Disease                                                                                      11

Wiskott-Aldrich Syndrome                                                                        1

Wolcott-Rallison Syndrome                                                                      5

Wolman Disease                                                                                     7

Xeroderma Pigmentosum                                                                         5

Zellweger Spectrum Disorders                                                                  14