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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

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C

Campomelic Dysplasia (CD)

Canavan Disease

Candidate Gene for Hearing Loss

Cardio-Facio-Cutaneous Syndrome

Carney Complex

Carnitine Acylcarnitine Translocase Deficiency

Carnitine Palmitoyltransferase IA Deficiency

Carnitine Palmitoyltransferase II (CPT2) Deficiency

Carrier/Mutation-Specific Testing

Cartilage-Hair Hypoplasia

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

CEDNIK Syndrome

Cerebellar Hypoplasia

Cerebral Cavernous Malformation (CCM)

Cerebral Creatine Deficiency Syndrome-1 (CCDS1)

Chanarin-Dorfman syndrome

Charcot Marie Tooth (CMT)

Charcot-Marie-Tooth disease type 1A/ Charcot-Marie-Tooth disease type 1E/ Dejerine-Sottas disease/ Inflammatory Demyelinating Neuropathy/ Recurrent Neuropathy with Pressure Palsies/ Roussy-Levy Syndrome

Charcot-Marie-Tooth disease, axonal, type 2W/ Usher syndrome type 3B

Charcot-Marie-Tooth disease, recessive intermediate, B/ DFNB89

Charcot-Marie-Tooth Disease, Type 2A2

Charcot-Marie-Tooth neuropathy, X-linked dominant, 1

CHARGE Syndrome

Cherubism

Chondrodysplasia Punctata (CDPX1)

Choroideremia

Chromosomal Abnormalities

Chronic Granulomatous Disease (CGD)

Chronic Infantile Neurologic Cutaneous and Articular Syndrome

Chronic Intestinal Pseudoobstruction with Myopathy and Ophthalmoplegia (CIPO)

Chronic Progressive External Ophthalmoplegia (CPEO)

Chudley-McCullough syndrome

Chuvash Type Polycythemia

Citrin deficiency

Classic Citrullinemia

Clouston Syndrome

CMT with Focal Segmental Glomerulosclerosis

COACH Syndrome

Cobalamin Metabolism and Related Disorders

Coffin-Lowry Syndrome (CLS)

Cohen Syndrome

Collodion Baby

Colorectal Cancer

Combined D-2- and L-2-Hydroxyglutaric Aciduria

Combined Malonic and Methylmalonic Aciduria (CMAMMA)

Combined pituitary hormone deficiency

Combined Saposin Deficiency

Complex I Deficiency

Complex II Deficiency (MT-C2D)

Complex III Deficiency

Complex IV(Cytochrome C Oxidase) Deficiency

Complex V (ATP Synthesis) Deficiency

Complicated Hereditary Spastic Paraplegias

Cone-Rod Dystrophy, Autosomal Dominant

Cone-Rod Dystrophy, Autosomal Recessive

Congenital Amegakaryocytic Thrombocytopenia (CAMT)

Congenital Contractural Arachnodactyly

Congenital Disorder of Glycosylation

Congenital Ichthyosiform Erythroderma, Non-Bullous

Congenital Insensitivity to Pain (CIP)

Congenital Insensitivity to Pain with Anhidrosis

Congenital Muscular Dystrophy (CMD)

Congenital Myopathies

Congenital Nystagmus, X-linked

Congenital Sideroblastic Anemia with B-cell Immunodeficiency, Periodic fevers, and Developmental delay (SIFD)

Congenital Stationary Night Blindness, Autosomal Dominant

Congenital Stationary Night Blindness, Autosomal Recessive

Congenital Stationary Night Blindness, X-Linked

CopyDx/MLPA Testing

Cornelia de Lange Syndrome

Cortical Brain Malformations

Costello Syndrome

Cowden Syndrome

Craniofrontonasal syndrome

CRASH Syndrome

Creatine Deficiency Syndromes

Cutis Laxa, Autosomal Dominant

Cyclic Neutropenia

Cytochrome P450 Oxidoreductase (POR) Deficiency

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