GEN HEKİMİ

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P

 

P2RX2

Hearing Loss Test

P3H1(LEPRE1)

Osteogenesis Imperfecta Panel

PABPN1

PABPN1 Repeat Analysis

PAFAH1B1

Comprehensive Brain Malformations Panel

Cortical Brain Malformations Panel

Lissencephaly Panel

Prenatal Lissencephaly Panel

PAH

PAH Gene Sequencing

PALB2

OncoGeneDx Custom Panel

Breast Cancer High Risk Panel and PALB2

Breast Cancer High/Moderate Risk Panel

Breast Cancer Surgical Panel

Breast/Ovarian Cancer Panel

Comprehensive Cancer Panel

High/Moderate Risk Panel

Pancreatic Cancer Panel

PARS2

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

PAX2

PAX2 Gene Sequencing

PAX2 Tier 1

PAX2 Tier 2

PAX3

Hearing Loss Test

PAX6

PAX6 Gene Sequencing & Del/Dup Panel

PC

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

Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

PC Gene Sequencing

Reflex Del/Dup Testing after Hyperammonemia Panel

PCCA

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

Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

PCCA Gene Sequencing

Reflex Del/Dup Testing after Hyperammonemia Panel

PCCB

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

Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

PCCB Gene Sequencing

Reflex Del/Dup Testing after Hyperammonemia Panel

PCDH15

Hearing Loss Test

Usher Syndrome Del/Dup Panel

Usher Syndrome Panel

PCDH19

Childhood-Onset Epilepsy Panel

Comprehensive Epilepsy Panel

Epilepsy Del/Dup Panel

Infantile Epilepsy Panel

STAT Epilepsy Panel

PCNT

Microcephaly Panel

PCSK9

Custom Familial Hypercholesterolemia (FH) Panel *

Familial Hypercholesterolemia (FH) Panel

PDCD10

CCM Tier 2

Cerebral Cavernous Malformations (CCM) Panel

PDCD10 Gene Sequencing

PDE6A

arRP Sequencing Panel

PDE6B

arRP Del/Dup Panel

arRP Sequencing Panel

PDE6B Gene Sequencing

PDHA1

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

PDHA1 Gene Sequencing

PDHB

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

PDHB Gene Sequencing

PDHX

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

PDLIM3

Custom Cardiomyopathy Panel *

Custom Combined Cardiac Panel *

Cardiomyopathy Panel

Combined Cardiac Panel

PDP1

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

PDSS1

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

PDSS2

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

PDX1

MODY Sequencing Panel

PEPD

PEPD Gene Sequencing

PET100

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

PEX7

Chondrodysplasia Punctata Panel

Congenital Ichthyosis XomeDxSlice

Prenatal Skeletal Dysplasia Panel

PFKM

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

PGAM2

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Metabolic Myopathy

Reflex Del/Dup Testing After Metabolic Myopathy

PGM1

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Metabolic Myopathy

Reflex Del/Dup Testing After Metabolic Myopathy

PHEX

PHEX Gene Sequencing & Del/Dup (Females)

PHEX Gene Sequencing (Males)

PHF6

Epilepsy Del/Dup Panel

Syndromic Macrocephaly/Overgrowth Panel

PHGDH

Congenital Ichthyosis XomeDxSlice

PHKA1

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Metabolic Myopathy

Neuromuscular Disorders Panel

Reflex Del/Dup Testing After Metabolic Myopathy

PHKA2

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

PHKB

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

PHKG2

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

PHOX2B

OncoGeneDx Custom Panel

Pediatric Tumor Panel

PHYH

Congenital Ichthyosis XomeDxSlice

PIGA

Comprehensive Epilepsy Panel

Epilepsy Del/Dup Panel

Infantile Epilepsy Panel

PIGO

Comprehensive Epilepsy Panel

Epilepsy Del/Dup Panel

Infantile Epilepsy Panel

PIGV

Comprehensive Epilepsy Panel

Epilepsy Del/Dup Panel

Infantile Epilepsy Panel

PITX2

PITX2 Gene Sequencing

PKP1

Epidermolysis Bullosa (EB) XomeDxSlice

PKP2

Custom Arrhythmia Panel *

Custom ARVC Panel *

Custom Brugada Syndrome (BrS) Panel *

Custom Cardiomyopathy Panel *

Custom Combined Cardiac Panel *

Arrhythmia Panel

ARVC Panel

BrS Panel

Cardiomyopathy Panel

Combined Cardiac Panel

PLCB1

Epilepsy Del/Dup Panel

PLEC

Epidermolysis Bullosa (EB) XomeDxSlice

Neuromuscular Disorders Panel

PLEC1

PLEC1 Remaining Exons Sequencing

PLEC1 Select Exons Sequencing

PLEKHG5

CMT Panel

Hereditary Neuropathy Panel

Neuromuscular Disorders Panel

PLN

Custom Arrhythmia Panel *

Custom ARVC Panel *

Custom Cardiomyopathy Panel *

Custom Combined Cardiac Panel *

Custom DCM/LVNC Panel *

Custom HCM Panel *

Arrhythmia Panel

ARVC Panel

Cardiomyopathy Panel

Combined Cardiac Panel

DCM/LVNC Panel

HCM Panel

PLOD1

Custom HDCT Panel *

HDCT Panel

PLOD2

Osteogenesis Imperfecta Panel

PLP1

Comprehensive Hereditary Spastic Paraplegia Panel

PLS3

Osteogenesis Imperfecta Panel

PMM2

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

PMP22

CMT Panel

Core CMT Panel

Demyelinating CMT Panel

Hearing Loss Test

Hereditary Neuropathy Panel

PMP22 Del/Dup

PMP22 Gene Sequencing

PMS2

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

PNKP

Childhood-Onset Epilepsy Panel

Comprehensive Epilepsy Panel

Epilepsy Del/Dup Panel

Infantile Epilepsy Panel

PNP

B-positive SCID Panel

Comprehensive SCID Panel

PNPLA1

Congenital Ichthyosis XomeDxSlice

PNPLA2

Congenital Ichthyosis XomeDxSlice

PNPLA6

Comprehensive Hereditary Spastic Paraplegia Panel

PNPO

Comprehensive Epilepsy Panel

Epilepsy Del/Dup Panel

Infantile Epilepsy Panel

STAT Epilepsy Panel

PNPT1

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Hearing Loss Test

Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

POLD1

OncoGeneDx Custom Panel

Colorectal Cancer Panel

Comprehensive Cancer Panel

Endometrial Cancer Panel

POLE

OncoGeneDx Custom Panel

Colorectal Cancer Panel

Comprehensive Cancer Panel

POLG

Childhood-Onset Epilepsy Panel

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Epilepsy Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Epilepsy Del/Dup Panel

Infantile Epilepsy Panel

Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

Methylglutaconic Aciduria Nuclear Gene Panel

Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

POLG Gene Sequencing

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

STAT Epilepsy Panel

POLG2

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

POMGNT1

Comprehensive Brain Malformations Panel

Cortical Brain Malformations Panel

Limb-Girdle Muscular Dystrophy Panel

Lissencephaly Panel

Neuromuscular Disorders Panel

Prenatal Lissencephaly Panel

Syndromic Congenital Muscular Dystrophy Panel(SCMD)

POMGNT2

Comprehensive Brain Malformations Panel

Cortical Brain Malformations Panel

Lissencephaly Panel

Prenatal Lissencephaly Panel

POMK

Comprehensive Brain Malformations Panel

Cortical Brain Malformations Panel

POMP

Congenital Ichthyosis XomeDxSlice

POMT1

Comprehensive Brain Malformations Panel

Cortical Brain Malformations Panel

Limb-Girdle Muscular Dystrophy Panel

Lissencephaly Panel

Neuromuscular Disorders Panel

Prenatal Lissencephaly Panel

Syndromic Congenital Muscular Dystrophy Panel(SCMD)

POMT2

Comprehensive Brain Malformations Panel

Cortical Brain Malformations Panel

Limb-Girdle Muscular Dystrophy Panel

Lissencephaly Panel

Neuromuscular Disorders Panel

Prenatal Lissencephaly Panel

Syndromic Congenital Muscular Dystrophy Panel(SCMD)

POR

POR Gene Sequencing

Premature Ovarian Failure Sequencing Panel

Prenatal POR Gene Sequencing

PORCN

PORCN Gene Sequencing & Del/Dup

POU3F4

Hearing Loss Test

POU4F3

Hearing Loss Test

PP1B

Osteogenesis Imperfecta Panel

PPIB

Prenatal Skeletal Dysplasia Panel

PPT1

Childhood-Onset Epilepsy Panel

Comprehensive Epilepsy Panel

Epilepsy Del/Dup Panel

Infantile Epilepsy Panel

Progressive Myoclonic Epilepsy Panel

PQBP1

Comprehensive Brain Malformations Panel

Cortical Brain Malformations Panel

PRDM16

Custom Cardiomyopathy Panel *

Custom Combined Cardiac Panel *

Custom DCM/LVNC Panel *

Cardiomyopathy Panel

Combined Cardiac Panel

DCM/LVNC Panel

PRDM5

Custom HDCT Panel *

HDCT Panel

PRICKLE1

Childhood-Onset Epilepsy Panel

Comprehensive Epilepsy Panel

Epilepsy Del/Dup Panel

Progressive Myoclonic Epilepsy Panel

PRKAG2

Custom Cardiomyopathy Panel *

Custom Combined Cardiac Panel *

Custom HCM Panel *

Cardiomyopathy Panel

Combined Cardiac Panel

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

HCM Panel

PRKAR1A

OncoGeneDx Custom Panel

Pediatric Tumor Panel

PRKAR1A Gene Sequencing

PRKAR1A Gene Sequencing & Del/Dup

PRKDC

B-negative SCID Panel

Comprehensive SCID Panel

PRKG1

Custom HDCT Panel *

Custom Marfan/TAAD & Related Disorders Panel *

HDCT Panel

Marfan/TAAD Panel

Rest of Marfan/TAAD Sequencing & Del/Dup Panel

PROK2

Hypogonadotropic Hypogonadism Gene Sequencing and Del/Dup Panel

PROKR2

Hypogonadotropic Hypogonadism Gene Sequencing and Del/Dup Panel

PRPF3

PRPF3 Gene Sequencing

PRPF31

adRP Tier 2

PRPF8

adRP Tier 1

PRPF8 Select Exons Sequencing

PRPS1

Axonal CMT Panel

CMT Panel

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Demyelinating CMT Panel

Hearing Loss Test

Hereditary Neuropathy Panel

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

PRRT2

Comprehensive Epilepsy Panel

Epilepsy Del/Dup Panel

Infantile Epilepsy Panel

PRRT2 Gene Sequencing

PRX

CMT Panel

Demyelinating CMT Panel

Hereditary Neuropathy Panel

PSAP

PSAP Gene Sequencing

PSAT1

Congenital Ichthyosis XomeDxSlice

PSMC3IP

Premature Ovarian Failure Sequencing Panel

PSTPIP1

Periodic Fever Syndromes Panel (7 genes)

PSTPIP1 Remaining Exons Sequencing

PSTPIP1 Select Exons Sequencing

PTCH1

OncoGeneDx Custom Panel

Pediatric Tumor Panel

PTCH1 Gene Sequencing & Del/Dup

Syndromic Macrocephaly/Overgrowth Panel

PTEN

OncoGeneDx Custom Panel

Breast Cancer High Risk Panel

Breast Cancer High Risk Panel and PALB2

Breast Cancer High/Moderate Risk Panel

Breast/Ovarian Cancer Panel

Colorectal Cancer Panel

Comprehensive Cancer Panel

Endometrial Cancer Panel

High/Moderate Risk Panel

Pediatric Tumor Panel

PTEN Gene Sequencing and Del/Dup

PTEN Promoter Sequencing

PTEN Promoter Sequencing and Del/Dup

Renal Cancer Panel

Syndromic Macrocephaly/Overgrowth Panel

PTPN11

Custom Cardiomyopathy Panel *

Custom Combined Cardiac Panel *

Cardiomyopathy Panel

Combined Cardiac Panel

Noonan and RASopathies Panel

Prenatal Noonan Spectrum Disorders Panel

PTPN11 Gene Sequencing

PTPRC

B-positive SCID Panel

Comprehensive SCID Panel

PTPRQ

Hearing Loss Test

PTRH2

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

PTS

Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel

PTS Gene Sequencing

PUS1

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Congenital Sideroblastic Anemia Panel

Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

PUS1 Gene Sequencing

PYCR1

Custom HDCT Panel *

HDCT Panel

PYGM

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Metabolic Myopathy

Neuromuscular Disorders Panel

PYGM Gene Sequencing

Reflex Del/Dup Testing After Metabolic Myopathy

 

Q

QARS

Combined Mito Genome Plus Mito Nuclear Gene Panel

Comprehensive Epilepsy Panel

Comprehensive Mitochondrial Nuclear Gene Panel

Epilepsy Del/Dup Panel

Infantile Epilepsy Panel

QDPR

QDPR Gene Sequencing