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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

A

Achalasia-Addisonianism-Alacrima

Achondrogenesis

Achondroplasia (ACH)

Achromatopsia

Acral Peeling Skin Syndrome

Acro-Renal-Ocular syndrome

AD nocturnal frontal lobe epilepsy (ADNFLE)

Adenosine Deaminase Deficiency

Adenosuccinate lyase def (MR and ASD)

Adenylosuccinate Lyase Deficiency

Adrenal Hypoplasia Congenita (AHC), X-linked

Agammaglobulinemia, X-linked

Aicardi-Goutieres Syndrome

Alacrima, Achalasia, and Mental Retardation Syndrome (AAMR)

Alagille syndrome

Alexander Disease

Allgrove Syndrome

Alpers syndrome (Alpers-Huttenlocher syndrome)

Alpha-Dystroglycanopathies

Alpha-Methylacyl-CoA Racemase Deficiency

Alpha-Thalassemia Intellectual Disability Syndrome

Alport Syndrome

Alport Syndrome

Amish Lethal Microcephaly

Amyotrophic lateral sclerosis (ALS)

Anauxetic Dysplasia

Androgen Insensitivity Syndrome (AIS)

Angelman syndrome (AS)

Angelman-like syndrome, X-linked syndromic mental retardation (Christianson type)

Aniridia

Anophthalmia

Anterior Segment Dysgenesis

Antley-Bixler Syndrome (ABS)

APECED

AR Deafness

Ar Pitt-Hopkins-like MR, AR focal epilepsy (Amish)

Arginase Deficiency

Argininosuccinic Aciduria

Aromatase Deficiency

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

Arterial Tortuosity syndrome

Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome-1

Aspartylglucosaminuria

Ataxia

Attenuated Familial Adenomatous Polyposis (AFAP)

Atypical Rett Syndrome

Auditory Neuropathy, Autosomal Dominant, 1

Auditory Neuropathy, Autosomal Dominant, 1

Auditory neuropathy, autosomal recessive, 1/ DFNB9

Autism Spectrum Disorders

Autoimmune Lymphoproliferative Syndrome (ALPS) Type 1A

Autoimmune Lymphoproliferative Syndrome Type IIA (ALPS IIA)

Autoimmune Lymphoproliferative Syndrome Type IIB (ALPS IIB)

Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy

Autoimmune Polyglandular Syndrome

Autosomal Recessive Congenital Ichthyosis

Autosomal recessive mental retardation with ovarian failure

Autosomal recessive primary microcephaly

Axenfeld-Rieger Syndrome

Axonal Charcot-Marie-Tooth Disease Type 2 (CMT2N)

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