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BRANŞLARA GÖRE TEST SEÇİMİ

*Detaylı bilgi için her bir hastalığın üstüne tıklayınız.

*Bizim yapmadığımız testlerin bazılarını çalıştırdığımız, hepsi sertifikalı ve yetkin, tüm yurt dışı ve yurt içi Laboratuvarlar ile anlaşmalıyız. Fiyat indirimi, doku örneklerinin güvenli bir şekilde eldesi, gönderim ve takibi, testlerin açıklanması ve hastaya genetik danışmanlığının verilmesi tamamen bize ait sorumluluklardır.

*Genetik testler pahalı olabilen, zaman alan ve çok çeşitli testlerdir. Yanlış test seçimiyle çok sık  karşılaşılmaktadır. Hastanıza en uygun test seçimi için iletişime geçiniz.

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METABOLİK HASTALIKLAR

2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency

3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency

3-Hydroxyacyl-CoA Dehydrogenase Deficiency

3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency

3-Methylglutaconic Aciduria Type I

6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency

Arginase Deficiency

Argininosuccinic Aciduria

Beta-Ketothiolase Deficiency

Biotinidase Deficiency

Canavan Disease

Carnitine Acylcarnitine Translocase Deficiency

Carnitine Palmitoyltransferase IA Deficiency

Carnitine Palmitoyltransferase II (CPT2) Deficiency

Citrin deficiency

Classic Citrullinemia

Combined Saposin Deficiency

Dent Disease 2

Dihydrolipoamide Dehydrogenase Deficiency

Dihydropteridine Reductase (DHPR) Deficiency

Dopa-Responsive Dystonia

Ethylmalonic Encephalopathy

Fabry Disease

Familial Amyloid Polyneuropathy

Fumarate Hydratase Deficiency

Galactokinase deficiency

Galactosemia

Glutaric Aciduria Type I

Glutaric Aciduria Type II

Glycerol Kinase Deficiency

Glycogen Storage Disease Type II

GTP Cyclohydrolase I Deficiency

Hawkinsinuria

HMG-CoA Lyase Deficiency

Holocarboxylase Synthetase Deficiency / Multiple Carboxylase Deficiency

Homocystinuria due to Cystathionine Beta-Synthase Deficiency

Hydroxysteroid (17 Beta) Dehydrogenase 10 Deficiency

Infantile Parkinsonism, Autosomal Recessive

Isobutyryl-CoA Dehydrogenase Deficiency

Isovaleric Acidemia

Krabbe Disease

Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)

Lowe Syndrome (Oculocerebrorenal syndrome of Lowe)

Malonyl-CoA Decarboxylase Deficiency

Maple Syrup Urine Disease (MSUD)

Maple Syrup Urine Disease, Type III

Maroteaux-Lamy Syndrome

Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency

Metachromatic Leukodystrophy

Methionine Adenosyltransferase I/III Deficiency

Methylmalonic Acidemia

Methylmalonic Aciduria and Homocystinuria, cobalamin C (cblC) Type

Morquio Syndrome A

Mucolipidosis IV

Mucopolysaccharidosis IIIA, IIIB, IIIC and IIID

Mucopolysaccharidosis Type IVA

Mucopolysaccharidosis VI (MPSVI)

Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)

Multiple Sulfatase Deficiency

N-Acetylglutamate Synthase Deficiency (NAGS)

Neuronal Ceroid-Lipofuscinosis 2 (CLN2)

Niemann-Pick Disease, Type C

Niemann-Pick Disease, Types A and B

Ornithine Transcarbamylase (OTC) Deficiency

Phenylketonuria

Pompe Disease

Primary/Systemic Carnitine Deficiency

Propionic Acidemia

Pyruvate Carboxylase Deficiency

Pyruvate Dehydrogenase E1-Alpha Deficiency

Pyruvate Dehydrogenase E1-Beta Deficiency

Sanfilippo Syndrome A, B, C and D

Saposin A Deficiency

Saposin B Deficiency

Saposin C Deficiency

Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency

Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency

Smith-Lemli-Opitz Syndrome

Tay-Sachs Disease

Tyrosine Hydroxylase Deficiency

Tyrosinemia Type I

Tyrosinemia type II

Tyrosinemia type III

Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency

 

MİTOKONDRİYAL HASTALIKLAR

Alpers syndrome (Alpers-Huttenlocher syndrome)

Carnitine Acylcarnitine Translocase Deficiency

Oxidative Phosphorylation (OXPHOS) Deficiency

Complex I Deficiency

Complex II Deficiency (MT-C2D)

Complex III Deficiency

Complex IV(Cytochrome C Oxidase) Deficiency

Complex V (ATP Synthesis) Deficiency

Diabetes and Hearing Loss

Glycogen Storage Disease IXc (GSD9C)

Glycogen Storage Disease 0, Muscle (GSD0B)

Kearns-Sayre Syndrome (KSS)

Lactic acidosis

Lebers Hereditary Optic Neuropathy (LHON)

Maple Syrup Urine Disease, Type III

Maternally Inherited Diabetes and Deafness (MIDD)

Methylmalonic Aciduria and Homocystinuria, cblJ Type

Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS)

Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA)

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome (MNGIE)

Mitochondrial Trifunctional Protein (MTP) Deficiency

Myoclonic Epilepsy with Ragged-Red Fibers (MERRF)

Neurogenic Weakness with Ataxia and Retinitis Pigmentosa (NARP)

Optic Atrophy

Pearson Syndrome

Primary Coenzyme Q10 Deficiency

Pyruvate dehydrogenase complex deficiency

Pyruvate Metabolism

Sideroblastic Anemia

Spastic Paraplegia 4 (SPG4)

Wolfram Syndrome

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