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ÇALIŞILAN GENLER

*Detaylı bilgi için her bir testin 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. 

E

EARS2

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel

EBP

Chondrodysplasia Punctata Panel

Congenital Ichthyosis XomeDxSlice

Prenatal Skeletal Dysplasia Panel

ECHS1

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

EDA1

EDA1 Gene Sequencing & Del/Dup (Female)

EDA1 Gene Sequencing (males)

EDAR

EDAR Gene Sequencing

EDARADD

EDARADD Gene Sequencing

EDN3

Hearing Loss Test

EDNRB

Hearing Loss Test

EEF1A2

Childhood-Onset Epilepsy Panel

Comprehensive Epilepsy Panel

Epilepsy Del/Dup Panel

Infantile Epilepsy Panel

EFEMP2

Custom HDCT Panel *

HDCT Panel

EFNB1

EFNB1 Gene Sequencing

EGR2

CMT Panel

Demyelinating CMT Panel

Hereditary Neuropathy Panel

EHMT1

Epilepsy Del/Dup Panel

EIF2AK4

Pulmonary Arterial Hypertension Panel

ELAC2

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

ELANE (ELA2)

ELANE (ELA2) Gene Sequencing

Periodic Fever Syndromes Panel (7 genes)

ELMOD3

Hearing Loss Test

ELN

Custom HDCT Panel *

HDCT Panel

ELN Gene Sequencing

ELOVL4

Congenital Ichthyosis XomeDxSlice

ELOVL4 Tier 1

ELOVL4 Tier 2

Stargardt Del/Dup Panel

Stargardt Sequencing Panel

ELP4

PAX6 Gene Sequencing & Del/Dup Panel

EMD

Custom Cardiomyopathy Panel *

Custom Combined Cardiac Panel *

Custom DCM/LVNC Panel *

Cardiomyopathy Panel

Combined Cardiac Panel

DCM/LVNC Panel

Neuromuscular Disorders Panel

ENG

Hereditary Hemorrhagic Telangiectasia Panel

Pulmonary Arterial Hypertension Panel

ENO3

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

EPCAM

OncoGeneDx Custom Panel

Breast/Ovarian Cancer Panel

Colorectal Cancer Panel

Comprehensive Cancer Panel

Endometrial Cancer Panel

Hereditary Prostate Cancer Panel

High/Moderate Risk Panel

Lynch/Colorectal High Risk Panel

Pancreatic Cancer Panel

Pediatric Tumor Panel

Renal Cancer Panel

EPM2A

Childhood-Onset Epilepsy Panel

Comprehensive Epilepsy Panel

Epilepsy Del/Dup Panel

Progressive Myoclonic Epilepsy Panel

EPS8

Hearing Loss Test

ERLIN2

Comprehensive Hereditary Spastic Paraplegia Panel

ERMARD

Comprehensive Brain Malformations Panel

Cortical Brain Malformations Panel

ESCO2

Limb Abnormalities Panel

ESPN

Hearing Loss Test

ESRRB

Hearing Loss Test

ETFA

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

ETFA Gene Sequencing

Fatty Acid Oxidation Sequencing Panel

Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel

Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

Metabolic Myopathy

Reflex Del/Dup Testing After Fatty Acid Oxidation Disorders Panel

Reflex Del/Dup Testing after Hyperammonemia Panel

Reflex Del/Dup Testing After Metabolic Myopathy

ETFB

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

ETFB Gene Sequencing

Fatty Acid Oxidation Sequencing Panel

Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel

Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

Metabolic Myopathy

Reflex Del/Dup Testing After Fatty Acid Oxidation Disorders Panel

Reflex Del/Dup Testing after Hyperammonemia Panel

Reflex Del/Dup Testing After Metabolic Myopathy

ETFDH

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

ETFDH Gene Sequencing

Fatty Acid Oxidation Sequencing Panel

Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel

Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

Metabolic Myopathy

Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

Reflex Del/Dup Testing After Fatty Acid Oxidation Disorders Panel

Reflex Del/Dup Testing after Hyperammonemia Panel

Reflex Del/Dup Testing After Metabolic Myopathy

ETHE1

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

ETHE1 Gene Sequencing & Del/Dup

Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

EVC

Prenatal Skeletal Dysplasia Panel

Short-Rib Thoracic Dysplasia (SRTD) Panel

EVC2

Prenatal Skeletal Dysplasia Panel

Short-Rib Thoracic Dysplasia (SRTD) Panel

EXOSC3

Comprehensive Brain Malformations Panel

Pontocerebellar Hypoplasia Panel

Prenatal Pontocerebellar Panel

EXPH5

Epidermolysis Bullosa (EB) XomeDxSlice

EXT1

EXT1 & EXT2 Sequencing & Del/Dup

HME Tier 1

EXT2

EXT1 & EXT2 Sequencing & Del/Dup

HME Tier 1

HME Tier 2

EYA1

EYA1 Gene Sequencing & Del/Dup

Hearing Loss Test

EYA4

Hearing Loss Test

EYS

arRP Del/Dup Panel

arRP Sequencing Panel

EZH2

Syndromic Macrocephaly/Overgrowth Panel

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