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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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DERMATOLOJİ

Basal cell nevus syndrome

Birt-Hogg-Dube Syndrome

Bloom Syndrome

Bullous Ichthyosiform Erythroderma

Carney Complex

Chanarin-Dorfman syndrome

Clouston Syndrome

Collodion Baby

Congenital Insensitivity to Pain with Anhidrosis

Cutis Laxa, Autosomal Dominant

Darier Disease

Dyskeratosis Congenita

Dystrophic Epidermolysis Bullosa (DEB)

Ectodermal Dysplasia

Ectrodactyly

Epidermolysis Bullosa Dystrophica

Epidermolysis Bullosa, Junctional Type

Epidermolysis Bullosa, Junctional with Muscular Dystrophy

Epidermolysis Bullosa, Junctional with Pyloric Atresia

Epidermolysis Bullosa Simplex

Epidermolytic Ichthyosis

Epidermolytic Palmoplantar Keratoderma (EPPK)

Erythrokeratodermia Variabilis (EKV)

Familial Cutaneous Malignant Melanoma

Ferguson-Smith Disease

Focal Dermal Hypoplasia

Fumarate Hydratase Deficiency

Generalized Atrophic Benign Epidermolysis Bullosa (GABEB)

Goltz Syndrome

Gorlin Syndrome

Hailey-Hailey disease

Harlequin Ichthyosis

Hay-Wells Syndrome

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)

Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV)

Herlitz Junctional Epidermolysis Bullosa

Hermansky-Pudlak Syndrome

Hidrotic ectodermal dysplasia

Hoyeraal-Hreidarsson Syndrome (HHS)

Hyper-IgE Syndrome (HIES)

Hypo-/Anhidrotic Ectodermal Dysplasia

Autosomal Recessive Congenital Ichthyosis

Ichthyosis Vulgaris

Jobs Syndrome

Keratitis-Ichthyosis-Deafness syndrome (KID syndrome)

Lamellar Ichthyosis Type 1

Lamellar Ichthyosis Type 2

Mitis Junctional Epidermolysis Bullosa

Netherton Syndrome

Neutral lipid storage disease with ichthyosis (NLSD)

Nevoid basal cell carcinoma syndrome

Congenital Ichthyosiform Erythroderma, Non-Bullous

Non-epidermolytic Palmoplantar Keratoderma (NEPPK)

Non-Herlitz Junctional Epidermolysis Bullosa

Odonto-onycho-dermal dysplasia (OODD)

Pachyonychia Congenita type 1 (PC1)

Pachyonychia Congenita type 2 (PC2)

Pneumothorax, Primary Spontaneous

Pseudoxanthoma Elasticum (PXE)

Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne Syndrome

Schopf-Schulz-Passarge Syndrome (SSPS)

Sjogren Larsson Syndrome (SLS)

Split Hand - Split Foot Malformation

Steatocystoma Multiplex

Superficial Epidermolytic Ichthyosis

Unna-Thost disease

Vohwinkel syndrome

Vorner syndrome

White Sponge Nevus

Ectrodactyly- Ectodermal Dysplasia- Clefting (EEC) syndrome

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DİSMORFOLOJİ

Alagille syndrome

Antley-Bixler Syndrome (ABS)

Axenfeld-Rieger Syndrome

Bannayan-Riley-Ruvalcaba Syndrome

Branchiootic Syndrome

Branchiootorenal syndrome

Campomelic Dysplasia (CD)

Cardio-Facio-Cutaneous Syndrome

CHARGE Syndrome

Cherubism

Chondrodysplasia Punctata (CDPX1)

Coffin-Lowry Syndrome (CLS)

Cohen Syndrome

Costello Syndrome

Cowden Syndrome

Craniofrontonasal syndrome

Cutis Laxa, Autosomal Dominant

Cytochrome P450 Oxidoreductase (POR) Yetmezliği

DiGeorge syndrome

Ectodermal Dysplasia

Ectrodactyly

Feingold Syndrome

Greig Cephalopolysyndactyly Syndrome

Hay-Wells Syndrome

Holoprosencephaly

HOXD13-Associated Limb Abnormalities

Hypo-/Anhidrotic Ectodermal Dysplasia

Kabuki syndrome (KS)

Kallmann Syndrome

Metachondromatosis

Microphthalmia, Lenz Syndrome

Noonan-Like Syndrome

Noonan Syndrome

Noonan syndrome with multiple lentigines

Oculo Facio Cardio Dental Syndrome

Oral-Facial-Digital syndrome Type 1

Pallister Hall syndrome (PHS)

Popliteal Pterygium Syndrome

Prader-Willi syndrome (PWS)

Proteus Syndrome/Proteus-like Syndrome

PTEN associated Macrocephaly/Autism Syndrome

Rieger Syndrome

Rubinstein-Taybi Syndrome (RSTS)

Simpson-Golabi-Behmel Syndrome (SGBS)

Smith-Magenis Syndrome (SMS)

Sotos Syndrome

Split Hand - Split Foot Malformation

Supravalvular Aortic Stenosis

Triphalangeal Thumb Polydactyly

Van der Woude Syndrome

Velocardiofacial syndrome

Williams-Beuren syndrome

Ectrodactyly- Ectodermal Dysplasia- Clefting (EEC) syndrome

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