GEN HEKİMİ

A

​

A2ML1

Noonan and RASopathies Panel

AAAS

AAAS Gene Sequencing

AARS

Axonal CMT Panel

CMT Panel

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Hereditary Neuropathy Panel

AARS2

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

ABCA12

ABCA12 Gene Sequencing

ABCA12 Select Exon Sequencing

Congenital Ichthyosis XomeDxSlice

ABCA4

arRP Del/Dup Panel

arRP Sequencing Panel

Cone-Rod Dystrophy Sequencing Panel

Stargardt Del/Dup Panel

Stargardt Sequencing Panel

ABCB11

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

ABCB4

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

ABCB7

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Congenital Sideroblastic Anemia Panel

ABCC6

ABCC6 Gene Sequencing

ABCC6 Hot Spots (Tier I)

ABCC9

Custom Arrhythmia Panel *

Custom Brugada Syndrome (BrS) Panel *

Custom Cardiomyopathy Panel *

Custom Combined Cardiac Panel *

Custom DCM/LVNC Panel *

Arrhythmia Panel

BrS Panel

Cardiomyopathy Panel

Combined Cardiac Panel

DCM/LVNC Panel

ABCD1

Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel

ABCD4

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Methylmalonic Acidemia, Cobalamin Metabolism and Related Disorders Sequencing Panel

Reflex Del/Dup Testing After MMA and Related Disorders Panel

ABHD12

Hearing Loss Test

ABHD5

ABHD5 Gene Sequencing

Congenital Ichthyosis XomeDxSlice

ACAD8

ACAD8 Gene Sequencing

ACAD9

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

ACADM

ACADM Gene Sequencing

ACADM Mutation Detection (T121I)

ACADM Remaining Exons Sequencing

ACADM Select Exons Sequencing

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Fatty Acid Oxidation Sequencing Panel

Hyperammonemia, Urea Cycle and Transporter Defects Sequencing 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

ACADS

ACADS Gene Sequencing

Fatty Acid Oxidation Sequencing Panel

Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel

Reflex Del/Dup Testing After Fatty Acid Oxidation Disorders Panel

Reflex Del/Dup Testing after Hyperammonemia Panel

ACADSB

ACADSB (M389V) Mutation Analysis

ACADSB Gene Sequencing

ACADVL

ACADVL Gene Sequencing

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Fatty Acid Oxidation Sequencing Panel

Hyperammonemia, Urea Cycle and Transporter Defects Sequencing 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

ACAT1

ACAT1 Gene Sequencing

ACO2

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

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

ACSF3

ACSF3 Gene Sequencing

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Methylmalonic Acidemia, Cobalamin Metabolism and Related Disorders Sequencing Panel

Reflex Del/Dup Testing After MMA and Related Disorders Panel

ACTA1

ACTA1 Gene Sequencing

ACTA1 Gene Sequencing & NEB Mutation Analysis

Congenital Myopathies & Muscular Dystrophies Panel

Neuromuscular Disorders Panel

ACTA2

Custom HDCT Panel *

Custom Marfan/TAAD & Related Disorders Panel *

HDCT Panel

Marfan/TAAD Panel

Rest of Marfan/TAAD Sequencing & Del/Dup Panel

ACTB

Comprehensive Brain Malformations Panel

Cortical Brain Malformations Panel

Lissencephaly Panel

Noonan and RASopathies Panel

Prenatal Lissencephaly Panel

ACTC1

Custom Cardiomyopathy Panel *

Custom Combined Cardiac Panel *

Custom DCM/LVNC Panel *

Custom HCM Panel *

Cardiomyopathy Panel

Combined Cardiac Panel

DCM/LVNC Panel

HCM Panel

ACTG1

Comprehensive Brain Malformations Panel

Cortical Brain Malformations Panel

Hearing Loss Test

Lissencephaly Panel

Noonan and RASopathies Panel

Prenatal Lissencephaly Panel

ACTN2

Custom Cardiomyopathy Panel *

Custom Combined Cardiac Panel *

Custom DCM/LVNC Panel *

Custom HCM Panel *

Cardiomyopathy Panel

Combined Cardiac Panel

DCM/LVNC Panel

HCM Panel

ACVRL1

Hereditary Hemorrhagic Telangiectasia Panel

Pulmonary Arterial Hypertension Panel

ADA

ADA Gene Sequencing

B-negative SCID Panel

Comprehensive SCID Panel

ADAMTS2

Custom HDCT Panel *

HDCT Panel

ADCK3 (CABC1; COQ8)

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

ADCK4

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

ADGRG1

Comprehensive Brain Malformations Panel

Cortical Brain Malformations Panel

ADSL

Childhood-Onset Epilepsy Panel

Comprehensive Epilepsy Panel

Epilepsy Del/Dup Panel

Infantile Epilepsy Panel

AFG3L2

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

AGA

AGA Gene Sequencing

AGK

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

Methylglutaconic Aciduria Nuclear Gene Panel

AGL

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

Metabolic Myopathy

Reflex Del/Dup Testing After Metabolic Myopathy

AGPS

Chondrodysplasia Punctata Panel

Congenital Ichthyosis XomeDxSlice

Prenatal Skeletal Dysplasia Panel

AGRN

Congenital Myasthenia Syndromes Panel

AHI1

Comprehensive Brain Malformations Panel

Joubert Syndrome and Related Disorders Panel

Prenatal Joubert Syndrome and Related Disorders Panel

AICDA

AICDA Gene Sequencing

AIFM1

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

AIPL1

AIPL1 Gene Sequencing

LCA Tier 1

LCA Tier 5

AIRE

AIRE Gene Sequencing

AIRE Remaining Exons

AIRE Select Exons

AK2

B-negative SCID Panel

Comprehensive SCID Panel

AKAP9

Custom Arrhythmia Panel *

Custom Combined Cardiac Panel *

Custom LQTS Panel *

Arrhythmia Panel

Combined Cardiac Panel

LQTS Panel

AKT3

Comprehensive Brain Malformations Panel

Cortical Brain Malformations Panel

ALAS2

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Congenital Sideroblastic Anemia Panel

ALDH18A1

Custom HDCT Panel *

HDCT Panel

ALDH3A2

ALDH3A2 Gene Sequencing

Congenital Ichthyosis XomeDxSlice

ALDH7A1

Comprehensive Epilepsy Panel

Epilepsy Del/Dup Panel

Infantile Epilepsy Panel

STAT Epilepsy Panel

ALDOA

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Metabolic Myopathy

ALDOB

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

ALG1

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

ALG11

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

ALG13

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Epilepsy Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Epilepsy Del/Dup Panel

Infantile Epilepsy Panel

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

ALG2

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Congenital Myasthenia Syndromes Panel

ALG3

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

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

ALG6

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

ALG9

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

ALK

OncoGeneDx Custom Panel

Pediatric Tumor Panel

ALMS1

Custom Cardiomyopathy Panel *

Custom Combined Cardiac Panel *

Custom DCM/LVNC Panel *

Cardiomyopathy Panel

Combined Cardiac Panel

DCM/LVNC Panel

ALOX12B

ALOX12B Gene Sequencing

Congenital Ichthyosis XomeDxSlice

ALOXE3

ALOXE3 Gene Sequencing

Congenital Ichthyosis XomeDxSlice

ALPK3

Custom Cardiomyopathy Panel *

Custom Combined Cardiac Panel *

Cardiomyopathy Panel

Combined Cardiac Panel

AMACR

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

ANK2

Custom Arrhythmia Panel *

Custom Combined Cardiac Panel *

Custom LQTS Panel *

Custom SCA Arrhythmia Panel *

Arrhythmia Panel

Combined Cardiac Panel

LQTS Panel

SCA Arrhythmia Panel

ANKRD1

Custom Cardiomyopathy Panel *

Custom Combined Cardiac Panel *

Custom DCM/LVNC Panel *

Cardiomyopathy Panel

Combined Cardiac Panel

DCM/LVNC Panel

ANKRD11

ANKRD11 Gene Sequencing

ANO5

Limb-Girdle Muscular Dystrophy Panel

Neuromuscular Disorders Panel

AP1S1

Congenital Ichthyosis XomeDxSlice

AP4B1

Comprehensive Hereditary Spastic Paraplegia Panel

AP4E1

Comprehensive Hereditary Spastic Paraplegia Panel

AP4M1

Comprehensive Hereditary Spastic Paraplegia Panel

AP4S1

Comprehensive Hereditary Spastic Paraplegia Panel

APC

OncoGeneDx Custom Panel

Colorectal Cancer Panel

Comprehensive Cancer Panel

High/Moderate Risk Panel

Lynch/Colorectal High Risk Panel

Pancreatic Cancer Panel

Pediatric Tumor Panel

APOB

Custom Familial Hypercholesterolemia (FH) Panel *

Familial Hypercholesterolemia (FH) Panel

APOPT1

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

APTX

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

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

AR

AR Gene Sequencing

AR Repeat Analysis

Prenatal 46, XY DSD Panel

Prenatal AR Gene Sequencing

ARFGEF2

Comprehensive Brain Malformations Panel

Cortical Brain Malformations Panel

ARG1

ARG1 Gene Sequencing

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel

Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel

Reflex Del/Dup Testing after Hyperammonemia Panel

ARHGEF9

Comprehensive Epilepsy Panel

Epilepsy Del/Dup Panel

Infantile Epilepsy Panel

ARID1B

Epilepsy Del/Dup Panel

ARL13B

Comprehensive Brain Malformations Panel

Joubert Syndrome and Related Disorders Panel

Prenatal Joubert Syndrome and Related Disorders Panel

ARSA

ARSA Gene Sequencing

Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel

ARSB

ARSB Gene Sequencing

ARSE

ARSE Gene Sequencing

ARSE Gene Sequencing & Del/Dup (Females)

Chondrodysplasia Punctata Panel

Congenital Ichthyosis XomeDxSlice

Prenatal Skeletal Dysplasia Panel

ARX

Comprehensive Brain Malformations Panel

Comprehensive Epilepsy Panel

Cortical Brain Malformations Panel

Epilepsy Del/Dup Panel

Infantile Epilepsy Panel

Lissencephaly Panel

Prenatal 46, XY DSD Panel

Prenatal Lissencephaly Panel

STAT Epilepsy Panel

ASL

ASL Gene Sequencing

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel

Reflex Del/Dup Testing after Hyperammonemia Panel

ASPA

ASPA Gene Sequencing & Del/Dup

ASPM

Comprehensive Brain Malformations Panel

Cortical Brain Malformations Panel

Microcephaly Panel

ASS1

ASS1 Gene Sequencing

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel

Reflex Del/Dup Testing after Hyperammonemia Panel

ATL1

Comprehensive Hereditary Spastic Paraplegia Panel

Hereditary Neuropathy Panel

Uncomplicated Hereditary Spastic Paraplegia Panel

ATM

OncoGeneDx Custom Panel

B-positive SCID Panel

Breast Cancer High/Moderate Risk Panel

Breast/Ovarian Cancer Panel

Colorectal Cancer Panel

Comprehensive Cancer Panel

Comprehensive SCID Panel

Hereditary Prostate Cancer Panel

High/Moderate Risk Panel

Pancreatic Cancer Panel

ATP1A2

Comprehensive Epilepsy Panel

Epilepsy Del/Dup Panel

ATP2A1

Neuromuscular Disorders Panel

ATP2A2

ATP2A2 Gene Sequencing

ATP2C1

ATP2C1 Gene Sequencing

ATP5A1

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

ATP5E

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

Methylglutaconic Aciduria Nuclear Gene Panel

Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

ATP6AP2

Comprehensive Epilepsy Panel

Epilepsy Del/Dup Panel

Infantile Epilepsy Panel

ATP6V0A2

Custom HDCT Panel *

HDCT Panel

Comprehensive Brain Malformations Panel

Cortical Brain Malformations Panel

Lissencephaly Panel

Prenatal Lissencephaly Panel

ATP6V1B1

Hearing Loss Test

ATP7A

Custom HDCT Panel *

HDCT Panel

Hereditary Neuropathy Panel

ATP7B

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

ATP8B1

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

ATPAF2 (ATP12)

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

Methylglutaconic Aciduria Nuclear Gene Panel

Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

ATR

Microcephaly Panel

ATRX

Epilepsy Del/Dup Panel

Microcephaly Panel

AUH

AUH Gene Sequencing

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Methylglutaconic Aciduria Nuclear Gene Panel

Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

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

AXIN2

OncoGeneDx Custom Panel

Colorectal Cancer Panel

Comprehensive Cancer Panel