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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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NÖROLOJİ-PSİKİYATRİ

Achalasia-Addisonianism-Alacrima

Adenylosuccinate Lyase Deficiency

Aicardi-Goutieres Syndrome

Alexander Disease

Allgrove Syndrome

Alpers syndrome (Alpers-Huttenlocher syndrome)

Anauxetic Dysplasia

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

Angelman syndrome (AS)

Atypical Rett Syndrome

Autism Spectrum Disorders

Benign Familial Neonatal-Infantile Seizures (BFNIS)

Benign Familial Neonatal Seizures (BFNS)

Biotinidase Deficiency

Cerebral Cavernous Malformation (CCM)

Coffin-Lowry Syndrome (CLS)

Cohen Syndrome

Congenital Insensitivity to Pain with Anhidrosis

CRASH Syndrome

Creatine Deficiency Syndromes

Cutis Laxa, Autosomal Dominant

Dihydrolipoamide Dehydrogenase Deficiency

Dopa-Responsive Dystonia

Early-Onset Epileptic Encephalopathy and/or Infantile Spasms

Epilepsy and Mental Retardation Limited to Females

Epilepsy with Variable Learning and Behavioral Disorders

Fabry Disease

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)

Fragile X Syndrome

Generalized Epilepsy with Febrile Seizures Plus (GEFS+)

Glucose Transporter Type I Deficiency Syndrome

Hereditary Inclusion Body Myopathy (HIBM)

Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV)

Holoprosencephaly

Hydrocephalus, X-linked

Infantile Parkinsonism, Autosomal Recessive

Infantile Spasm Syndrome-2, X-linked

Lafora Disease

MASA Syndrome

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

Mowat-Wilson Syndrome

Mucolipidosis IV

Nemaline Myopathy

Neuronal Ceroid Lipofuscinoses (NCL)

Niemann-Pick Disease, Type C

Niemann-Pick Disease, Types A and B

Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant

Ohtahara Syndrome

Ornithine Transcarbamylase (OTC) Deficiency

Partial Epilepsy with Auditory Features, Autosomal Dominant

Prader-Willi syndrome (PWS)

Premature Ovarian Failure (FMR1-Associated)

Progressive Myoclonic Epilepsy

Progressive Neurodevelopmental Syndrome in Males

Pyridoxine Dependent Seizures

Rett syndrome

Rubinstein-Taybi Syndrome (RSTS)

Septo-Optic Dysplasia

Simpson-Golabi-Behmel Syndrome (SGBS)

Smith-Lemli-Opitz Syndrome

Smith-Magenis Syndrome (SMS)

Sotos Syndrome

Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)

Supravalvular Aortic Stenosis

Tay-Sachs Disease

Triple-A Syndrome

Tyrosine Hydroxylase Deficiency

Unverricht-Lundborg Disease (Baltic Myoclonus)

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

West Syndrome

Williams-Beuren syndrome

Limb-Girdle Muscular Dystrophy (LGMD)

Amyotrophic lateral sclerosis (ALS)

Frontotemporal lobar degeneration (FTLD)

Lou Gehrig disease

GNE - Related Myopathy

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NEFROLOJİ (BÖBREK HASTALIKLARI)

Birt-Hogg-Dube Syndrome

Branchiootic Syndrome

Branchiootorenal syndrome

Dent Disease

Dent Disease 2

Familial Isolated Hyperparathyroidism (FIHP)

Fumarate Hydratase Deficiency

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)

Hyperparathyroidism-Jaw Tumor Syndrome

Oral-Facial-Digital syndrome Type 1

Parathyroid Carcinoma

Pneumothorax, Primary Spontaneous

Renal-Coloboma Syndrome / Papillorenal Syndrome

Alport Syndrome

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