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HASTALIKLARA GÖRE TESTLER

*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, gönderimi ve takibi, testlerin açıklanması ve hastaya genetik danışmanlığının verilmesi tamamen bize ait sorumluluklardır.

*Hastalıklar zaman zaman orijinal, zaman zaman Türkçe isimleriyle dizinlenmiştir. Mümkün olduğunca Türkçe açıklamalara yer verilmeye çalışılmıştır. 

X
Y
Z

M

Macrocephaly

Macular Dystrophy, Autosomal Dominant

Macular Dystrophy, Autosomal Recessive

Macular Dystrophy, Stargardt-Like

Majeed Syndrome

Malonyl-CoA Decarboxylase Deficiency

Maple Syrup Urine Disease (MSUD)

Maple Syrup Urine Disease, Type III

Marfan Syndrome/LDS/Related Disorders

Maroteaux-Lamy Syndrome

MASA Syndrome

Maternally Inherited Deafness or Aminoglycoside-Induced Deafness

Maternally Inherited Diabetes and Deafness (MIDD)

Maternally Inherited Diabetes Mellitus (MIDM)

Maturity-Onset Diabetes of the Young (MODY)

McArdle Disease

Meckel-Gruber Syndrome

Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency

MEDNIK Syndrome

Menkes Disease

Metabolic Myopathy

Metachondromatosis

Metachromatic Leukodystrophy

Metaphyseal Dysplasia without Hypotrichosis

Methionine Adenosyltransferase I/III Deficiency

Methylmalonic Acidemia

Methylmalonic Acidemia and Hyperhomocysteinemia, cblX Type

Methylmalonic Aciduria and Homocystinuria, cblJ Type

Methylmalonic Aciduria and Homocystinuria, cobalamin C (cblC) Type

Microcephaly

Microcephaly with Early-Onset Intractable Seizures and Developmental Delay (MCSZ)

Microphthalmia

Microphthalmia, Lenz Syndrome

Mitis Junctional Epidermolysis Bullosa

Mitochondrial DNA Depletion Syndrome

Mitochondrial DNA Multiple Deletions

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

Mitochondrial Myopathy (MM)

Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA)

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome (MNGIE)

Mitochondrial Short-Chain Enoyl-CoA Hydratase-1 Deficiency (ECHS1D)

Mitochondrial Trifunctional Protein (MTP) Deficiency

Mohr-Tranebjaerg syndrome

Morquio B Disease

Morquio Syndrome A

Mowat-Wilson Syndrome

MtDNA-related disorders

Muckle-Wells Syndrome

Mucolipidosis I

Mucolipidosis IV

Mucopolysaccharidosis IIIA, IIIB, IIIC and IIID

Mucopolysaccharidosis IIIB

Mucopolysaccharidosis IIIC

Mucopolysaccharidosis Type IVA

Mucopolysaccharidosis Type IVB

Mucopolysaccharidosis VI (MPSVI)

Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)

Multiple Endocrine Neoplasia 2A

Multiple Endocrine Neoplasia 2B

Multiple Endocrine Neoplasia Type 1

Multiple Epiphyseal Dysplasia (MED)

Multiple Mitochondrial Dysfunctions Syndrome

Multiple Sulfatase Deficiency

Muscular Dystrophy-Dystroglycanopathy (LGMD)

Myasthenia/Myasthenic Syndromes (Congenital)

MYH9 related disease/Macrothrombocytopenia and progressive sensorineural deafness / DFNA17

Myoclonic Epilepsy with Ragged-Red Fibers (MERRF)

Myofibrillar Myopathy

Myofibrillar Myopathy (MFM)

Myotonia Atrophica

Myotonia Congenita

Myotonic Dystrophy, Type 1 (DM1)

Myotonic Dystrophy, Type 2 (DM2)

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