GEN HEKİMİ

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S

 

S1PR2

Hearing Loss Test

SAG

SAG c.926delA Mutation

SAG Remaining Exon Sequencing

SALL1

Limb Abnormalities Panel

Prenatal Limb Abnormalities Panel

Prenatal SALL1 Gene Sequencing

SALL1 Gene Sequencing

SALL4

Limb Abnormalities Panel

Prenatal Limb Abnormalities Panel

Prenatal SALL4 Gene Sequencing

SALL4 Gene Sequencing & Del/Dup

SARS2

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

SBDS

SBDS Gene Sequencing

SBF2

CMT Panel

Demyelinating CMT Panel

Hereditary Neuropathy Panel

SCARB2

Comprehensive Epilepsy Panel

Epilepsy Del/Dup Panel

Progressive Myoclonic Epilepsy Panel

SCG5/GREM1

OncoGeneDx Custom Panel

Colorectal Cancer Panel

Comprehensive Cancer Panel

SCN10A

Custom Arrhythmia Panel *

Custom Brugada Syndrome (BrS) Panel *

Custom Combined Cardiac Panel *

Arrhythmia Panel

BrS Panel

Combined Cardiac Panel

SCN1A

Childhood-Onset Epilepsy Panel

Comprehensive Epilepsy Panel

Epilepsy Del/Dup Panel

Infantile Epilepsy Panel

STAT Epilepsy Panel

SCN1B

Custom Arrhythmia Panel *

Custom Brugada Syndrome (BrS) Panel *

Custom Combined Cardiac Panel *

Arrhythmia Panel

BrS Panel

Childhood-Onset Epilepsy Panel

Combined Cardiac Panel

Comprehensive Epilepsy Panel

Epilepsy Del/Dup Panel

Infantile Epilepsy Panel

STAT Epilepsy Panel

SCN2A

Childhood-Onset Epilepsy Panel

Comprehensive Epilepsy Panel

Epilepsy Del/Dup Panel

Infantile Epilepsy Panel

STAT Epilepsy Panel

SCN2B

Custom Arrhythmia Panel *

Custom Brugada Syndrome (BrS) Panel *

Custom Combined Cardiac Panel *

Arrhythmia Panel

BrS Panel

Combined Cardiac Panel

SCN3B

Custom Arrhythmia Panel *

Custom Brugada Syndrome (BrS) Panel *

Custom Combined Cardiac Panel *

Arrhythmia Panel

BrS Panel

Combined Cardiac Panel

SCN4A

Congenital Myasthenia Syndromes Panel

Neuromuscular Disorders Panel

SCN4B

Custom Arrhythmia Panel *

Custom Combined Cardiac Panel *

Custom LQTS Panel *

Arrhythmia Panel

Combined Cardiac Panel

LQTS Panel

SCN5A

Custom Arrhythmia Panel *

Custom ARVC Panel *

Custom Brugada Syndrome (BrS) Panel *

Custom Cardiomyopathy Panel *

Custom Combined Cardiac Panel *

Custom DCM/LVNC Panel *

Custom LQTS Panel *

Custom SCA Arrhythmia Panel *

Arrhythmia Panel

ARVC Panel

BrS Panel

Cardiomyopathy Panel

Combined Cardiac Panel

DCM/LVNC Panel

LQTS Panel

SCA Arrhythmia Panel

SCN8A

Comprehensive Epilepsy Panel

Epilepsy Del/Dup Panel

Infantile Epilepsy Panel

STAT Epilepsy Panel

SCN9A

Hereditary Neuropathy Panel

SCN9A Gene Sequencing

SCO1

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

SCO2

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

SDHA

OncoGeneDx Custom Panel

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

PGL/PCC (Paraganglioma/Pheochromocytoma) Panel

SDHA Gene Sequencing

SDHAF1

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

SDHAF2

OncoGeneDx Custom Panel

PGL/PCC (Paraganglioma/Pheochromocytoma) Panel

SDHAF2 (G78R) Mutation Analysis

SDHB

OncoGeneDx Custom Panel

PGL/PCC (Paraganglioma/Pheochromocytoma) Panel

Renal Cancer Panel

SDHB Gene Sequencing

SDHC

OncoGeneDx Custom Panel

PGL/PCC (Paraganglioma/Pheochromocytoma) Panel

Renal Cancer Panel

SDHC Gene Sequencing

SDHD

OncoGeneDx Custom Panel

PGL/PCC (Paraganglioma/Pheochromocytoma) Panel

Renal Cancer Panel

SDHD Gene Sequencing

SDR9C7

Congenital Ichthyosis XomeDxSlice

SEPN1

Congenital Myopathies & Muscular Dystrophies Panel

Neuromuscular Disorders Panel

SEPSECS

Comprehensive Brain Malformations Panel

Pontocerebellar Hypoplasia Panel

Prenatal Pontocerebellar Panel

SERAC1

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

SERPINB6

Hearing Loss Test

SERPINF1

Osteogenesis Imperfecta Panel

SERPING1 (C1INH)

SERPING1 (C1INH) Gene Sequencing & Del/Dup

SERPINH1

Osteogenesis Imperfecta Panel

SFXN4

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

SGCA

Limb-Girdle Muscular Dystrophy Panel

Neuromuscular Disorders Panel

SGCB

Limb-Girdle Muscular Dystrophy Panel

Neuromuscular Disorders Panel

SGCD

Custom Cardiomyopathy Panel *

Custom Combined Cardiac Panel *

Custom DCM/LVNC Panel *

Cardiomyopathy Panel

Combined Cardiac Panel

DCM/LVNC Panel

Limb-Girdle Muscular Dystrophy Panel

Neuromuscular Disorders Panel

SGCG

Limb-Girdle Muscular Dystrophy Panel

Neuromuscular Disorders Panel

SGSH

Sanfilippo/MPSIII Sequencing Panel

SGSH Gene Sequencing

SH3BP2

SH3BP2 Gene Sequencing

SH3TC2

CMT Panel

Demyelinating CMT Panel

Hereditary Neuropathy Panel

SHH

Holoprosencephaly Panel & Del/Dup

Limb Abnormalities Panel

Prenatal Holoprosencephaly Panel & Del/Dup

SHOC2

Noonan and RASopathies Panel

Prenatal Noonan Spectrum Disorders Panel

SHOC2 Gene Sequencing

SIL1

Neuromuscular Disorders Panel

SIX1

Hearing Loss Test

SIX1 Gene Sequencing

SIX3

Holoprosencephaly Panel & Del/Dup

Prenatal Holoprosencephaly Panel & Del/Dup

SIX5

Hearing Loss Test

SKI

Custom HDCT Panel *

Custom Marfan/TAAD & Related Disorders Panel *

HDCT Panel

Marfan/TAAD Panel

Rest of Marfan/TAAD Sequencing & Del/Dup Panel

SLC12A6

CMT Panel

Hereditary Neuropathy Panel

SLC13A5

Comprehensive Epilepsy Panel

Epilepsy Del/Dup Panel

Infantile Epilepsy Panel

SLC16A2

Comprehensive Hereditary Spastic Paraplegia Panel

SLC17A5

SLC17A5 Gene Sequencing & Del/Dup

SLC17A8

Hearing Loss Test

SLC19A2

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Congenital Sideroblastic Anemia Panel

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

SLC19A3

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

SLC22A5

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

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

SLC22A5 Gene Sequencing

SLC25A1

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

SLC25A13

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel

Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

Reflex Del/Dup Testing after Hyperammonemia Panel

SLC25A13 Gene Sequencing

SLC25A15

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel

Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

Reflex Del/Dup Testing after Hyperammonemia Panel

SLC25A19

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

Microcephaly Panel

Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

SLC25A20

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

SLC25A20 Gene Sequencing

SLC25A22

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Epilepsy Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Epilepsy Del/Dup Panel

Infantile Epilepsy Panel

Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

SLC25A3 (PHC)

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

SLC25A38

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Congenital Sideroblastic Anemia Panel

SLC25A4

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

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

SLC26A2

Achondrogenesis Panel

Prenatal Skeletal Dysplasia Panel

SLC26A4

Hearing Loss Test

SLC26A4 Gene Sequencing

SLC26A5

Hearing Loss Test

SLC27A4

Congenital Ichthyosis XomeDxSlice

SLC27A4 Gene Sequencing

SLC2A1

Childhood-Onset Epilepsy Panel

Comprehensive Epilepsy Panel

Epilepsy Del/Dup Panel

Infantile Epilepsy Panel

STAT Epilepsy Panel

SLC2A10

Custom HDCT Panel *

Custom Marfan/TAAD & Related Disorders Panel *

HDCT Panel

Marfan/TAAD Panel

Rest of Marfan/TAAD Sequencing & Del/Dup Panel

SLC2A2

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

SLC35A1

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

SLC35A2

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

SLC35C1

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

SLC37A4

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

SLC39A13

Custom HDCT Panel *

HDCT Panel

SLC52A2

Hereditary Neuropathy Panel

SLC6A8

Childhood-Onset Epilepsy Panel

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Epilepsy Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Infantile Epilepsy Panel

STAT Epilepsy Panel

SLC7A7

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel

Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

Reflex Del/Dup Testing after Hyperammonemia Panel

SLC9A6

Childhood-Onset Epilepsy Panel

Comprehensive Epilepsy Panel

Epilepsy Del/Dup Panel

Infantile Epilepsy Panel

Microcephaly Panel

Rett/Angelman Syndrome Panel

SLC9A6 Gene Sequencing

SLITRK6

Hearing Loss Test

SMAD3

Custom HDCT Panel *

Custom Marfan/TAAD & Related Disorders Panel *

HDCT Panel

Marfan/TAAD Panel

Rest of Marfan/TAAD Sequencing & Del/Dup Panel

SMAD4

Custom HDCT Panel *

Custom Marfan/TAAD & Related Disorders Panel *

HDCT Panel

OncoGeneDx Custom Panel

BMPR1A, SMAD4 Gene Sequencing & Del/Dup

Colorectal Cancer Panel

Comprehensive Cancer Panel

Hereditary Hemorrhagic Telangiectasia Panel

High/Moderate Risk Panel

JPS Del/Dup Analysis

JPS Tier 1

Marfan/TAAD Panel

Rest of Marfan/TAAD Sequencing & Del/Dup Panel

SMAD9

Pulmonary Arterial Hypertension Panel

SMARCA4

OncoGeneDx Custom Panel

Pediatric Tumor Panel

SMARCB1

OncoGeneDx Custom Panel

Comprehensive NF Panel

NF2 Panel

Pediatric Tumor Panel

SMC1A

Cornelia de Lange Syndrome Panel

Epilepsy Del/Dup Panel

Limb Abnormalities Panel

SMC1A Gene Sequencing

SMC3

Cornelia de Lange Syndrome Panel

Limb Abnormalities Panel

SMPD1

SMPD1 Gene Sequencing

SMPD1 Hot Spots (Ashkenazi Jewish mutation)

SMPX

Hearing Loss Test

SNAI2

Hearing Loss Test

SNAP29

Congenital Ichthyosis XomeDxSlice

SNTA1

Custom Arrhythmia Panel *

Custom Combined Cardiac Panel *

Custom LQTS Panel *

Arrhythmia Panel

Combined Cardiac Panel

LQTS Panel

SOS1

Custom Cardiomyopathy Panel *

Custom Combined Cardiac Panel *

Cardiomyopathy Panel

Combined Cardiac Panel

Noonan and RASopathies Panel

Prenatal Noonan Spectrum Disorders Panel

SOS2

Noonan and RASopathies Panel

SOX10

Hearing Loss Test

SOX2

Hearing Loss Test

Prenatal Anophthalmia/Microphthalmia Panel & Del/Dup

SOX2 Gene Sequencing

SOX9

Prenatal 46, XY DSD Panel

Prenatal Skeletal Dysplasia Panel

Prenatal SOX9 Gene Sequencing and Del/Dup

SOX9 Gene Sequencing

SP7

Osteogenesis Imperfecta Panel

SPAST

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Hereditary Spastic Paraplegia Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Uncomplicated Hereditary Spastic Paraplegia Panel

SPG11

Comprehensive Hereditary Spastic Paraplegia Panel

Uncomplicated Hereditary Spastic Paraplegia Panel

SPG20

Comprehensive Hereditary Spastic Paraplegia Panel

SPG21

Comprehensive Hereditary Spastic Paraplegia Panel

SPG7

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Hereditary Spastic Paraplegia Panel

Comprehensive Mitochondrial Nuclear Gene Panel

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

Uncomplicated Hereditary Spastic Paraplegia Panel

SPINK5

Congenital Ichthyosis XomeDxSlice

Hyper-IgE Syndromes Panel

SPINK5 Gene Sequencing

SPR

Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel

SPRED1

Comprehensive NF Panel

NF1 Panel

Noonan and RASopathies Panel

SPRED1 Gene Sequencing

SPTAN1

Comprehensive Epilepsy Panel

Epilepsy Del/Dup Panel

Infantile Epilepsy Panel

STAT Epilepsy Panel

SPTLC1

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Hereditary Neuropathy Panel

SPTLC2

Hereditary Neuropathy Panel

SRD5A2

Prenatal 46, XY DSD Panel

Prenatal SRD5A2 Gene Sequencing

SRD5A2 Gene Sequencing

SRD5A3

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Brain Malformations Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Cortical Brain Malformations Panel

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

SRPX2

Comprehensive Brain Malformations Panel

Cortical Brain Malformations Panel

SRY

Prenatal 46, XY DSD Panel

Prenatal SRY Gene Sequencing

SRY Gene Sequencing

SRY Present/Absent Testing

SSR4

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

ST14

Congenital Ichthyosis XomeDxSlice

STAT3

Hyper-IgE Syndromes Panel

STAT3 Gene Sequencing

STAT3 Remaining Exons Sequencing

STAT3 Select Exons Sequencing

STIL

Microcephaly Panel

STIM1

B-positive SCID Panel

Comprehensive SCID Panel

STK11

OncoGeneDx Custom Panel

Colorectal Cancer Panel

Comprehensive Cancer Panel

High/Moderate Risk Panel

Pancreatic Cancer Panel

Pediatric Tumor Panel

STK11 Gene Sequencing & Del/Dup

STRA6

STRA6 Gene Sequencing

STRC

Hearing Loss Test

STS

Congenital Ichthyosis XomeDxSlice

STT3A

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

STT3B

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

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

STXBP1

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Epilepsy Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Epilepsy Del/Dup Panel

Infantile Epilepsy Panel

Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

STAT Epilepsy Panel

SUCLA2

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel

Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

Metabolic Myopathy

Methylglutaconic Aciduria Nuclear Gene Panel

Methylmalonic Acidemia, Cobalamin Metabolism and Related Disorders Sequencing Panel

Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

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

Reflex Del/Dup Testing after Hyperammonemia Panel

Reflex Del/Dup Testing After Metabolic Myopathy

Reflex Del/Dup Testing After MMA and Related Disorders Panel

SUCLG1

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel

Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

Methylmalonic Acidemia, Cobalamin Metabolism and Related Disorders Sequencing Panel

Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

Reflex Del/Dup Testing after Hyperammonemia Panel

Reflex Del/Dup Testing After MMA and Related Disorders Panel

SUFU

OncoGeneDx Custom Panel

Pediatric Tumor Panel

SUMF1

SUMF1 Gene Sequencing

SURF1

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

SYNE1

Congenital Myopathies & Muscular Dystrophies Panel

Neuromuscular Disorders Panel

SYNE4

Hearing Loss Test

SYNGAP1

Epilepsy Del/Dup Panel