BÖLÜM PANEL ADI PANEL NAME BAKILAN GENLER
ORTAPEDİ Anormal Mineralizasyon Paneli Abnormal mineralization panel ALPL, ANKH, AP2S1, CASR, CLCN5, CYP27B1, CYP2R1, DMP1, ENPP1, FGF23, GNA11, PHEX, PTH1R, SLC34A1, SLC34A3, SLC9A3R1, VDR
GÖZ Renk Körlüğü paneli Achromatopsia panel ATF6, CNGA3, CNGB3, CNNM4, GNAT2, OPN1LW, OPN1MW, PDE6C, PDE6H, RPGR
HEMATOLOJİ Afibrinojemi Paneli Afibrinogenemia panel FGA, FGB, FGG
HEMATOLOJİ Agammaglobulinemia (Bruton Hastalığı) Paneli Agammaglobulinemia panel   BLNK, BTK, CD79A, CD79B, IGHM, IGLL1, LRRC8A, PIK3R1, SH2D1A
NÖROLOJİ Aicardi-Goutieres Sendromu Paneli Aicardi-Goutieres syndrome panel   ADAR, IFIH1, TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1
METABOLİZMA Albinizim Paneli Albinism Panel AP3B1, BLOC1S3, BLOC1S6, C10ORF11, DTNBP1, EDN3, EDNRB,
GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, KIT,
NÖROLOJİ Genel Nöroloji Paneli AllNeuro panel A2M, AAAS, AANAT, AARS, AARS2, AASS, ABAT, ABCA1, ABCB7, ABCC6, ABCC8, ABCD1, ABCD4, ABHD12, ABHD5
DAHİLİYE Alport Sendromu Paneli Alport syndrome panel COL4A3, COL4A4, COL4A5
NÖROLOJİ Alzheimer Demans ve Bunama Paneli Alzheimer dementia and dementia panel APOE, APP, PRNP, PSEN1, PSEN2, SORL1, TREM2
NÖROLOJİ Amyotrofik Lateral Skleroz (ALS) Paneli Amyotrophic lateral sclerosis (ALS) panel ALS2, ANG, CHCHD10, CHMP2B, DCTN1, ERBB4, FIG4, FUS, HNRNPA1, MATR3, NEFH, OPTN, PFN1, PRPH, SETX
KARDİYOLOJİ Aritmi Paneli (Kalıtsal) Arrhythmia, hereditary panel AKAP9, ANK2, CACNA1C, CACNB2, CASQ2, CAV3, DSC2, DSG2, DSP, GPD1L, JUP, KCNA5, KCNE1, KCNE2, KCNE3
ORTAPEDİ Artrogriposiz Multipleks Konjenita (AMK) Paneli Arthrogryposis panel TPM2, MYBPC1, MYH3, TNNT3, TNNI2, MYH8, FBN2, PIEZO2, ECEL1, DOK7, RAPSN
ENDOKRİNOLOJİ Goşe Hastalığı Paneli (Basic) Ashkenazi panel (basic) ABCC8 (c.3989-9G>A, p.F1387del (NM_000352.3)), ASPA (p.Y231X, p.E285A, p.A305E (NM_001128085.1)), 
ENDOKRİNOLOJİ Goşe Hastalığı Paneli (Gelişmiş) Ashkenazi panel (advanced) ABCC8 (c.3989-9G>A, p.F1387del (NM_000352.3)), ASPA (c.433-2A>G, p.Y231X, p.E285A, p.A305E (NM_00112)
DAHİLİYE Atipik Hemolitik Üremik Sendromu Paneli Atypical hemolytic uremic syndrome panel ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR5, CFI, DGKE, MMACHC, PIGA, PLG, THBD
HEMATOLOJİ Otoimmün Lenfoproliferatif (ALPS) Paneli Autoimmune lymphoproliferative syndrome panel CASP10, CASP8, CTLA4, FADD, FAS, FASLG, ITK, KRAS, MAGT1, NRAS, PRKCD
METABOLİZMA Bardet Biedl Paneli Bardet Biedl panel ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CCDC28B, CEP290, IFT27, LZTFL1, MKKS, MKS1, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP
METABOLİZMA Bartter Sendromu Paneli Bartter Syndrome panel ATP6V1B1, BSND, CA2, CASR, CLCNKA, CLCNKB, CLDN16, CLDN19, FXYD2, HSD11B2, KCNJ1, KCNJ10, KLHL3, NR3
NÖROLOJİ Bethiem Miyopati Paneli Bethlem myopathy panel COL6A1, COL6A2, COL6A3, COL12A1
İMMUNOLOJİ B-Negatif SCID Paneli B-negative SCID panel ADA, AK2, DCLRE1C, LIG4, NHEJ1, RAC2, RAG1, RAG2
ONKOLOJİ  Kemik İliği Bozukluğu Paneli Bone marrow failure panel ABCB7, AK2, ALAS2, ANKRD26, BRCA2, BRIP1, CASP10, CBL, CDAN1, CSF3R, CXCR4, DKC1, ELANE, ERCC4, FANC
İMMUNOLOJİ B-Pozitif SCID Paneli B-positive SCID panel CD3D, CD3E, CD247, FOXN1, IL2RG, IL7R, JAK3, ORAI1, PNP, PTPRC, RMRP, STAT5B, STIM1, TBX1, ZAP70
NÖROLOJİ Beyin Demir Akümülasyonu Sendromu Paneli Brain iron accumulation syndromes panel ATP13A2, C19orf12, COASY, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, SCP2, WDR45
ONKOLOJİ Meme Kanseri Paneli BRCA1, BRCA2 panel BRCA1, BRCA2
ONKOLOJİ Meme Kanseri Paneli (Somatik Mutasyon) BRCA1, BRCA2 somatic mutation BRCA1, BRCA2
ONKOLOJİ Meme Yumurtalığı Kanseri Paneli Breast ovarian cancer panel CDH1, PTEN, STK11, TP53
ONKOLOJİ Meme Yumurtalığı Kanseri Paneli (PLUS) Breast ovarian cancer panel PLUS ATM, BARD1, BRIP1, CHEK2, MEN1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PMS1, PMS2, RAD50, RAD51C, RAD51D, XRCC2
KARDİYOLOJİ Brugada Sendromu Paneli Brugada syndrome panel CACNA1C, CACNB2, GPD1L, HCN4, KCNE3, SCN1B, SCN3B, SCN5A, SLMAP
ONKOLOJİ Kanser Sıcak nokta (Hotspot) Paneli Cancer Hotspot Panel ABL1, AKT1, ALK, APC, ATM, BRAF, CDH1, CDKN2A, CSF1R, CTNN
KARDİYOLOJİ Kardiyomiyopati Paneli Cardiomyopathy dilated panel ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, EMD, EYA4
KARDİYOLOJİ Kardiyomiyopati Hipertrofik Paneli Cardiomyopathy hypertrophic panel ACTC1, ACTN2, ANKRD1, CALR3, CAV3, CRYAB, CSRP3, DES, FHL2, FLNC, GLA, JPH2, LAMP2, LDB3, MYBPC3, MY
GÖZ Katarakt Paneli Cataract panel AGK, BCOR, BFSP1, BFSP2, CHMP4B, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB
KARDİYOLOJİ Katoklominerjik Polimorfik Ventriküler Taşikardi Paneli Catecholaminergic polymorphic ventricular tachycardia panel RYR2, CASQ2, KCNJ2
ONKOLOJİ CentoGöğüs Paneli CentoBreast® panel ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NBN, PALB2, PTEN, RAD51C, STK11, TP53
ONKOLOJİ CentoKanser Paneli CentoCancer panel APC, ATM, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FH, FLCN, MLH1
ONKOLOJİ CentoKolon Gelişmiş Panel CentoColon extended panel APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53
YENİ DOĞAN CENTOISU Platinyum CentoICU™ platinum AARS, AARS2, AASS, ABAT, ABCA12, ABCA3, ABCB11, ABCC8, ABCD1, ABCD3, ABCD4, ACAD8, ACAD9, ACADM, ACA
YENİ DOĞAN CENTOISU Platinyum Plus CentoICU™ platinum plus AARS, AARS2, AASS, ABAT, ABCA12, ABCA3, ABCB11, ABCC8, ABCD1, ABCD3, ABCD4, ACAD8, ACAD9, ACADM, ACA
YENİ DOĞAN CentoMito Kapsamlı CentoMito™ Comprehensive 
 
AARS2, AASS, ABAT, ABCB6, ABCB7, ABCD1, ABCD3, ACACA, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, AC
YENİ DOĞAN CentoMito Genom CentoMito™ Genome MT-ND1, MT-ND2, MT-CO1, MT-CO2, MT-ATP8, MT-ATP6, MT-CO3, MT-ND3, MT-ND4L, MT-ND4, MT-ND5, MT-ND6,
GÖĞÜS HASTALIKLARI Merkezi Hipoventilasyon Sendromu Paneli Central hypoventilation syndrome panel RET, GDNF, EDN3, BDNF, ASCL1, PHOX2A, PHOX2B, ZEB2, GFRA1, ECE1, MECP2
NÖROLOJİ Serebellar Ataksi Paneli (SCA) Cerebellar ataxia panel 

COQ8A, APTX, COQ2, COQ9, DNMT1, FXN, PDSS1, PDSS2, POLG,   SACS, SETX, SYNE1, TTPA, VLDLR
NÖROLOJİ Serebral Kavernöz Malformasyonları Paneli Cerebral cavernous malformations panel CCM2, KRIT1, PDCD10
NÖROLOJİ Nöranal Seroid Lipofuzinos Paneli Ceroid lipofuscinosis panel ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1
İMMUNOLOJİ Kronik Granülomatöz Hastalığı Paneli  Chronic granulomatous disease panel CYBA, CYBB, NCF1, NCF2, NCF4
GÖĞÜS HASTALIKLARI Siliyer (Birincil) Diskinezi Paneli (PCD) Karteneger Sendromu Ciliary (primary) dyskinesia panel DNAI1, DNAAF2, DNAAF3, DNAAF5, DNAH5, HYDIN, NME8, DNAH11, DNAI2, RSPH4A, RSPH9, DNAAF1, CCDC39, CCDC40, DNAL1, CCDC103, LRRC6, CCDC114
KBB Yarık Dudak /Damak Paneli Cleft lip/palate panel BMP4, IRF6, MSX1, PVRL1, SUMO1, TP63
NÖROLOJİ CMT Nöropati Paneli CMT neuropathy panel AARS, AIFM1, ARHGEF10, BSCL2, COX6A1, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FAM134B, FBLN5, FG
NÖROLOJİ Coffin Siris Sendromu Paneli Coffin-Siris syndrome panel ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1
DAHİLİYE Polip Dışı Kolon Kanseri Paneli Colon cancer non-polyposis panel MSH2, MLH1, MSH6, PMS2, EPCAM
DAHİLİYE Polipli Kolon Kanseri Paneli Colon cancer with polyps panel APC, BMPR1A, MUTYH, PTEN, SMAD4, STK11
ENDOKRİNOLOJİ Kombine Hipofiz Hormon Eksikliği Paneli Combined pituitary hormone deficiency panel GHR, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1
İMMUNOLOJİ Ortak Değişken İmmün (CVID) Paneli Common variable immune deficiency (CVID) panel ICOS, NFKB2, TNFRSF13B, TNFRSF13C
NÖROLOJİ Kapsamlı Distoni Paneli  Comprehensive dystonia panel ADCY5, ANO3, ARSA, ATM, ATP1A3, ATP7B, CACNA1B, CIZ1, COL6A3, DRD2, GCDH, GCH1, GNAL, HPCA, KCNMA1, 
NÖROLOJİ Kapsamlı Epilepsi Paneli Comprehensive epilepsy panel ACY1, ADSL, ALDH7A1, AMT, ARHGEF15, ARHGEF9, ARX, ASAH1, CACNA1H, CACNB4, CDKL5, CERS1, CHRNA2, CHRN... (for the
GÖĞÜS HASTALIKLARI Kapsamlı Akciğer Hastalıkları Paneli Comprehensive pulmonary disease panel ABCA3, ACVRL1, AP3B1, ASCL1, BDNF, BLOC1S3, BLOC1S6, BMPR2, CCDC39, CCDC40, CFTR, CSF2RA, CSF2RB, DK
İMMUNOLOJİ Kapsamlı SCID Paneli Comprehensive SCID panel ADA, AK2, CD3D, CD3E, CD247, DCLRE1C, FOXN1, IL2RG, IL7R, JAK3, LIG4, NHEJ1, ORAI1, PNP, PTPRC, RAC2, RAG1, RAG2, RMRP, STAT5B, STIM1, TBX1, ZAP70
GÖZ Kon-Rod  ve Kon Distorfi Panel Cone-rod and cone dystrophy panel ABCA4, ADAM9, AIPL1, BEST1, C8ORF37, CABP4, CACNA1F, CACNA2D4, CDHR1, CERKL, CNGB3, CNNM4, CRX, GUCA
ENDOKRİNOLOJİ Konjenital Adrenal Hiperplazi (KAH) Congenital adrenal hyperplasia panel CYP21A2, CYP17A1, CYP11B1, HSD3B2, POR, STAR
HEMATOLOJİ Konjenital Diseritropoitik Anemi Paneli Congenital dyserythropoietic anemia panel C15orf41, CDAN1, GATA1, KLF1, SEC23B
ENDOKRİNOLOJİ Konjenital Glikozizasyon Hastalığı (CGD) Paneli Congenital glycosylation disease panel ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6V0A2, B4GALT1, COG1, COG4, COG5, COG6, 
KARDİYOLOJİ Konjenital Kalp Rahatsızlıkları Paneli Congenital heart defects panel CFC1, CITED2, CRELD1, FOXH1, GATA4, GATA6, GDF1, NKX2-5, NOTCH1, TBX1, TBX20, ZFPM2
DERMATOLOJİ Konjenital İktiyozis Paneli Congenital ichthyosis panel ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, LIPN, NIPAL4, PNPLA1, TGM1
NÖROLOJİ Konjenital Miyastenik Sendromu Paneli Congenital myasthenic syndrome panel AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, GFPT1, LAMB2, MUSK, PLEC, RAPSN, SCN4A
NÖROLOJİ Konjenital Miyopati Paneli Congenital myopathy panel ACTA1, BIN1, CCDC78, CFL2, CNTN1, DNM2, FHL1, KBTBD13, MAMLD1, MTM1, MTMR14, MYF6, MYH7, NEB, RYR1, SELENON, TNNT1, TPM2, TPM3
NÖROLOJİ Konjenital Nötropeni Paneli Congenital neutropenia panel
 CSF3R, CXCR4, ELANE, G6PC3, GFI1, HAX1, JAGN1, RAC2, SBDS,   VPS45, WAS
NÖROLOJİ Konjenital Sideroblastik Anemi Paneli Congenital sideroblastic anemia panel ABCB7, ALAS2, GLRX5, PUS1, SLC19A2, SLC25A38, TRNT1, YARS2
NÖROLOJİ Cornelia de Lange Sendromu (CDL) Paneli Cornelia de Lange syndrome panel AFF4, HDAC8, KMT2A, NIPBL, RAD21, SMC1A, SMC3, TAF6
NÖROLOJİ Kraniosinostoz ve Kraniofeysıl Bozuklukları Paneli Craniosynostosis and craniofacial disorders panel EFNB1, ERF, FGFR1, FGFR2, FGFR3, FREM1, GLI3, IFT43, IFT122, IL11RA, MEGF8, MSX2, POR, RAB23, RECQL4, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, WDR19, WDR35
DERMATOLOJİ Cutis Laxa Paneli Cutis laxa panel   ALDH18A1, ATP6V0A2, ATP7A, EFEMP2, ELN, FBLN5, LTBP4, PYCR1
KBB Sağırlık Paneli (Non sendromik Sensonöral Otozomal Dominant) Deafness, non-syndromic sensorineural autosomal dominant panel ACTG1, CCDC50, COCH, COL11A2, CRYM, DFNA5, DIABLO, DIAPH1, DIAPH3, EYA4, GJB2, GJB3, GJB6, GRHL2, KC
KBB Sağırlık Paneli (Non sendromik) Deafness, non-syndromic   CDH23, CLDN14, COL11A2, DFNB31, DFNB59, ESPN, ESRRB, FOXI1,
sensorineural autosomal recessive  GIPC3, GJB2, GJB3, GJB6, GPSM2, GRXCR1
NÖROLOJİ Dejerine - Sottas Sendromu Paneli Dejerine-Sottas syndrome panel MPZ, PMP22, PRX, EGR2, GJB1
NÖROLOJİ Bunama Paneli Dementia panel APOE, APP, CHMP2B, CSF1R, FUS, GRN, MAPT, PRNP, PSEN1, PSEN2, SORL1, TARDBP, TREM2, UBE3A, VCP
ENDOKRİNOLOJİ Diyabet Neonatal Panel Diabetes neonatal panel ABCC8, FOXP3, G6PC2, GCK, GLIS3, INS, INSR, KCNJ11, NEUROG3, PDX1
HEMATOLOJİ Diamond-Blackfan Anemisi (DBA) Paneli Diamond-Blackfan anemia panel GATA1, RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2
NÖROLOJİ Dolikoektazi Paneli Dolichoectasia panel COL4A1, COL4A2, GAA, MMP3, PKD1, PKD2, SLC2A10
NÖROLOJİ Dopa Duyarlı Distoni Paneli Dopa-responsive dystonia panel GCH1, TH, SPR
NÖROLOJİ Dravet Sendromu Paneli Dravet syndrome panel SCN1A, GABRG2, SCN2A, SCN9A
NÖROLOJİ Erken İnfantil Epileptik Ensefalopati (Ohtahara Sendromu) Early infantile epileptic encephalopathy panel AARS, ALG13, ARHGEF9, ARV1, ARX, CACNA1A, CDKL5, DNM1, DOCK7, EEF1A2, FRRS1L, GABRA1, GABRB3, GNAO1
DERMATOLOJİ Ehlers-Danlos Sendromu (EHS) ve bozuklukları Paneli Ehlers-Danlos syndrome and related disorders panel ADAMTS2, ATP7A, B3GALT6, B3GAT3, B4GALT7, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, D
DERMATOLOJİ Epidermolozis Bülloza Paneli Epidermolysis bullosa panel CHST8, COL17A1, COL7A1, CSTA, DSG1, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2, MMP1, PKP1, PLEC, TGM5
NÖROLOJİ Epilepsi yokluğu (çocuk) Paneli Epilepsy (absence) in childhood panel CACNA1H, GABRA1, GABRB3, GABRG2, JRK, SLC2A1
NÖROLOJİ Epilepsi (genel) Ateşli Nöbetlerle Paneli Epilepsy (generalized) with febrile seizures panel GABRD, GABRG2, SCN1A, SCN1B, SCN2A, SCN9A
NÖROLOJİ Kalıtsal Epilepsi (Kısmi) Paneli Epilepsy (partial) hereditary panel CACNA1H, CACNB4, CHRNA2, CHRNA4, CHRNB2, CLCN2, CPA6, DEPDC5, EFHC1, GABRA1, GABRB3, GABRD, GABRG2,
NÖROLOJİ Epileptik Ensofalopati Paneli Epileptic encephalopathy panel ACY1, ADSL, ALDH7A1, AMT, ARHGEF9, ARX, CDKL5, CNTNAP2, CPT2, FOLR1, FOXG1, GABRG2, GAMT, GCSH, GLDC
NÖROLOJİ Episodik Ataksi Paneli Episodic ataxia panel CACNA1A, CACNB4, KCNA1, SLC1A3
NÖROLOJİ Ailesel Hemiplejik Migren Paneli Familial hemiplegic migraine panel ATP1A2, CACNA1A, SCN1A
DAHİLİYE Ailesel Hiperkolesterol Paneli Familial hypercholesterolemia panel APOB, GHR, LDLR, PCSK9
KARDİYOLOJİ Ailesel Torakal Aortik Anevrizma Paneli Familial thoracic aortic aneurysm panel ACTA2, BGN, CBS, LOX, MAT2A, MFAP5, MYH11, MYLK
HeMATOLOJİ Fanconi Anemisi Paneli Fanconi anemia panel BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, RAD51C, SLX4, UBE2T, XRCC2
METABOLİZMA Yağlı Asit Oksitlenmesi Bozukluğu Paneli Fatty acid oxidation disorder panel ACAD9, ACADM, ACADS, ACADVL, CPT1A, CPT2, ETFA, ETFB, ETFDH, GLUD1, HADH, HADHA, HADHB, HMGCL, HSD17B10, PPARG, SLC22A5, SLC25A20, TAZ
JİNEKOLOJİ Kadın Kısırlık Paneli Female infertility panel BMP15, CYP21A2, FSHR, LHB, LHCGR, TUBB8, ZP1
GÖZ Lekeli Retina Paneli Flecked retina panel CHM, EFEMP1, PLA2G5, RDH5, RLBP1, RS1, VPS13B
DAHİLİYE Fokal Glomerülonefroz Paneli Focal Glomerulonephrosis panel ACTN4, CD2AP, INF2, NPHS1, NPHS2, TRPC6, WT1
NÖROLOJİ Öntemporal Dementiya Paneli Frontotemporal dementia panel CHCHD10, CHMP2B, CSF1R, DCTN1, FUS, GRN, ITM2B, MAPT, PRNP, PSEN1, PSEN2, SIGMAR1, TARDBP, TREM2, TUBA4A, UBQLN2, VCP
ONKOLOJİ Gastrik Kanser Paneli, Hedeflenmiş Gastric cancer panel, targeted BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, PMS1, PMS2, SMAD4
GÖZ Glukoma Paneli Glaucoma panel ACVR1, ASB10, BEST1, CANT1, COL18A1, CYP1B1, FOXC1, LMX1B, LOXL1, LTBP2, MYOC, NTF4, OPTN, PAX6, PITX2, PITX3, SBF2, WDR36
JİNEKOLOJİ Genel Kısırlık Paneli Global infertility panel AR, CATSPER1, CFTR, FSHB, FSHR, HESX1, LHB, LHCGR, NR5A1, POU1F1, SRY
ENDOKRİNOLOJİ Glikojen Depolama Hastalığı Paneli (Basic) Glycogen storage disease panel (basic) G6PC, SLC37A4, AGL, GBE1
ENDOKRİNOLOJİ Glikojen Depolama Hastalığı Paneli (Gelişmiş) Glycogen storage disease panel (advanced) GYS1, GYS2, G6PC, SLC37A4, GAA, AGL, GBE1, PYGM, PYGL, PFKM, PHKA2, PGAM2, LDHA, ALDOA, ENO3, PHKB, PHKA1, PGM1, GYG1, PRKAG2, PHKG2
HEMATOLOJİ Hemofagositik lenfohistiyositozis Paneli Hemophagocytic Lymphohistiocytosis panel PRF1, UNC13D, STX11, STXBP2
HEMATOLOJİ Kalıtsal Hemorajik Telangiektazya Paneli Hereditary hemorrhagic telangiectasia panel ACVRL1, ADAM17, ENG, GDF2, PTPN14, RASA1, SMAD4
HEMATOLOJİ Hermanski-Pudlak Sendromu Paneli Hermansky-Pudlak syndrome panel HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, DTNBP1, BLOC1S3
NÖROLOJİ Heterotaksi Paneli Heterotaxy panel ACVR2B, CFAP53, CFC1, CRELD1, FOXH1, GDF1, LEFTY2, MMP21, NKX2-5, NODAL, ZIC3
METABOLİZMA Hirschsprung Hastalığı Paneli Hirschsprung disease panel ECE1, EDN3, EDNRB, GDNF, KIF1BP, NRG1, NRTN, RET, SOX10, ZEB2
NÖROLOJİ Holoprezensefali Paneli Holoprosencephaly panel CDON, FGF8, GLI2, GLI3, PTCH1, SHH, SIX3, TGIF1, ZIC2
NÖROLOJİ Hiperekpleksiya Paneli Hyperekplexia panel ARHGEF9, GLRA1, GLRB, GPHN, SLC6A5
ENDOKRİNOLOJİ Hiper İnsülinnemik Hypoglisemi Paneli Hyperinsulinemic hypoglycemia panel ABCC8, GCK, GLUD1, HADH, INSR, KCNJ11, SLC16A1
ENDOKRİNOLOJİ Hypomagnezyum Paneli Hypomagnesemia panel CLDN16, CLDN19, CNNM2, EGF, FXYD2, KCNA1, SLC12A3, TRPM6
DERMATOLOJİ İktiyozis Paneli (Gelişmiş) Ichthyosis extended panel ABCA12, ALOX12B, ALOXE3, AP1S1, CERS3, CLDN1, CYP4F22, EBP, ERCC2, ERCC3, FLG, GJB2, GJB3, GJB4, GTF
DAHİLİYE  Intrahepatic Histiositoz Paneli Intrahepatic cholestasis panel ABCB11, ABCB4, ATP8B1, UGT1A1
NÖROLOJİ Joubert Sendromu Paneli Joubert syndrome panel AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP290, CEP41, CSPP1, EXOC8, GLI3, INPP5E, KIF7, MKS1, NE
NÖROLOJİ Kallman Sendromu ve Hipogonadizm Paneli Kallmann syndrome and Hypogonadotropic hypogonadism panel ANOS1, CHD7, DUSP6, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FSHB, GNRH1, GNRHR, HESX1, HS6ST1, IL17RD, KIS
NÖROLOJİ Klippel-feil Sendromu Paneli Klippel-feil syndrome panel GDF3, GDF6, MEOX1, MYO18B
GÖZ Leber Konjenital Amaurosis Paneli Leber congenital amaurosis panel AIPL1, CABP4, CEP290, CRB1, CRX, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1
GÖZ Leber Optik Atrofi Paneli Leber optic atrophy panel MT-ATP6, MT-CO1, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND4, MT-ND4L, MT-ND5, MT-ND6
NÖROLOJİ Leigh Sendromu ve Mitokondriyal Ensefalomyelopati Paneli Leigh syndrome and mitochondrial encephalopathy panel ACAD9, COQ8A, AIFM1, APTX, ATPAF2, BCS1L, TWNK, NDUFAF6, COQ2, COQ9, COX10, COX15, COX6B1, DARS2, DG
HEMATOLOJİ Lökodistrofi ve Peroksizom Biyogenez Bozuklukları Paneli Leukodystrophy and peroxisome biogenesis disorders panel ABCD1, AIMP1, ARSA, ASPA, BEST1, CSF1R, CYP27A1, DARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FA2H
METABOLİZMA Lipodistirofi Paneli Lipodystrophy panel AGPAT2, BSCL2, CAV1, CIDEC, LIPE, LMNA, PIK3R1, PLIN1, PPARG, PTRF
NÖROLOJİ Lisensefalinin ve Beyin Malformasyonu Paneli Lissencephaly and brain malformation panel ACTB, ACTG1, ADGRG1, ARX, CDK5, COL6A1, COL6A2, COL6A3, DCX, DYNC1H1, EOMES, FKRP, FKTN, ISPD, KATNB
KARDİYOLOJİ Uzun QT Sendromu Paneli Long QT syndrome panel AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1, TRDN
DAHİLİYE Lizozamal Depolama Hastalığı Paneli Lysosomal storage disease panel ARSA, FUCA1, GALC, GBA, GLB1, GNPTAB, GUSB, HEXA, HEXB, MAN2B1, MANBA, NAGA, SMPD1
ÜROLOJİ Erkek Kısırlık Paneli Male infertility panel AR, CATSPER1, CFTR, FSHR, LHCGR
METABOLİZMA Malign Hipertermi Paneli Malignant hyperthermia panel CACNA1S, RYR1
ÜROLOJİ Akçaağaç Şurubu Ürin Hastalıkları Paneli Maple syrup urine disease panel BCKDHA, BCKDHB, DBT, DLD
NÖROLOJİ Marfan Loeys Sendromu Paneli Marfan, Loeys-Dietz syndrome and related disorders panel COL3A1, COL5A1, COL5A2, EFEMP2, FBN1, FBN2, NOTCH1, SKI, SLC2A10, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
NÖROLOJİ Meckel Gruber Sendromu Paneli Meckel syndrome panel MKS1, TMEM216, TMEM67, CEP290, RPGRIP1L, CC2D2A, NPHP3, TCTN2, B9D1, B9D2, TMEM231
HEMATOLOJİ Megaloblastik Anemi Paneli Megaloblastic anemia panel AMN, CUBN, GIF
DERMATOLOJİ Melanom Paneli Melanoma panel BAP1, CDK4, CDKN2A, MITF, TERT
NÖROLOJİ Mental Reterdasyon Paneli, X bağlantılı Mental retardation, X-linked panel ABCD1, ACSL4, AFF2, AP1S2, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCOR, BRWD3, CASK, CDKL5, CU
METABOLİZMA Metabolik Miyopati Paneli Metabolic myopathies panel ABHD5, ACADVL, AGL, CPT2, ENO3, ETFA, ETFB, ETFDH, GAA, GBE1, GYG1, GYS1, LDHA, LPIN1, PFKM, PGAM2,
ORTAPEDİ Metafiz Displazisi Metaphyseal dysplasia panel ANKH, CDKN1C, FLNA, MMP9, MMP13, NKX3-2, RMRP, RUNX2
ÜROLOJİ Metil Malonik Asidemi Paneli (Basic) Methylmalonic acidemia panel (basic) MCEE, MMAA, MMAB, MMADHC, MUT
ÜROLOJİ Metil Malonik Asidemi Paneli (Gelişmiş) Methylmalonic acidemia panel (advanced) ABCD4, ACSF3, CD320, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, SUCLA2, SUCLG1
NÖROLOJİ Warburg Mikro Sendromu Paneli Micro syndrome panel ALDH18A1, CREBBP, CUL7, RAB18, RAB3GAP1, RAB3GAP2, TBC1D20
NÖROLOJİ Mikrosefali Paneli Microcephaly panel AKT3, AP4M1, ARFGEF2, ASPM, ASXL3, ATR, ATRX, CASC5, CASK, CDK5RAP2, CDK6, CENPE, CENPF, CENPJ, CEP1
GÖZ Mikroftalmi / Anoftalmi / Koloboma Spectrum Paneli Microphthalmia/anophthalmia/coloboma spectrum panel ABCB6, ALDH1A3, BCOR, BMP4, CHD7, ERCC1, ERCC2, ERCC5, ERCC6, FOXE3, FOXL2, FRAS1, FREM1, FREM2, GDF
DAHİLİYE MODY Paneli MODY panel ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, NKX2-2, PAX4, PDX1, RFX6, ZFP57
METABOLİZMA Mukopolisakkaridoz (MPS) Paneli Mucopolysaccharidosis panel ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, IDS, IDUA, NAGLU, SGSH
ENDOKRİNOLOJİ Çoklu Endokrin Paneli Multiple endocrine neoplasias /paraganglioma/pheochromocytoma panel CDKN1B, MAX, MEN1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
ORTAPEDİ Çoklu Epifizyel Displazi Paneli  Multiple epiphyseal dysplasia panel COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2
ORTAPEDİ Musküler Distrofi Paneli Muscular dystrophy panel ANO5, CAPN3, CAV3, CLCN1, COL6A1, COL6A2, COL6A3, DAG1, DES, DMD, DNAJB6, DYSF, EMD, FHL1, FKRP, FKT
ORTAPEDİ Musküler Distrofi-Distiroglikonopati Paneli Muscular dystrophy-dystroglycanopathy type A panel B3GALNT2, B4GAT1, DAG1, FKRP, FKTN, GMPPB, ISPD, LARGE, POMGNT1, POMGNT2, POMK, POMT1, POMT2, TMEM5
HEMATOLOJİ Miyoleid Tümör Paneli Myeloid Tumor Panel ASXL1, CEBPA, DNMT3A, ETV6, EZH2, IDH1, IDH2, KIT, KRAS, NPM1, NRAS, PTPN11, RAD21, RUNX1, SF3B1, SMC1A, SMC3, STAG2, TET2, TP53, U2AF1, WT1
NÖROLOJİ Miyoklinik Distoni Paneli Myoclonic dystonia panel SGCE, DRD2, TOR1A
NÖROLOJİ Miyoklonik Epilepsi Paneli Myoclonic epilepsy panel ASAH1, CACNB4, CERS1, CSTB, DRD2, EFHC1, EPM2A, GABRA1, GABRD, GLDC, GOSR2, NEU1, NHLRC1, NOL3, POLG, PRICKLE1, PRICKLE2, SCARB2, SGCE
ORTAPEDİ Miyofibriller Miyopati Paneli Myofibrillar myopathy panel BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, LDB3, MYOT
ORTAPEDİ Miyopati-Rabdomiyoliz Sendromu Paneli Myopathy-rhabdomyolysis syndrome panel ACAD9, ACADM, ACADVL, AGL, AMPD1, CPT2, ETFA, ETFB, GAA, GYS1, HADHA, HADHB, LPIN1, OPA1, OPA3, PFKM
ORTAPEDİ Nemalin Miyopatisi Nemaline myopathy panel ACTA1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, NEB, TNNT1, TPM2, TPM3
DAHİLİYE Neonatal Mitokondrial Hepatopati Paneli Neonatal mitochondrial hepatopathies panel BCS1L, DGUOK, FAH, GFM1, HAMP, MPV17, NBAS, POLG, RRM2B, TFR2, TRMU
DAHİLİYE Nefronofitizis (Üremik Modüler Kistik Hatalık-UMPC) Paneli Nephronophthisis panel NPHP1, INVS, NPHP3, NPHP4, ANKS6, IQCB1, CEP164, CEP290, GLIS2, RPGRIP1L, NEK8, SDCCAG8, ZNF423
DAHİLİYE Nefrotik Sendromu Paneli Nephrotic syndrome panel ARHGDIA, DGKE, LAMB2, NPHS1, NPHS2, PLCE1, WT1
NÖROLOJİ Nörofibromatozis Paneli Neurofibromatosis panel NF1, NF2, SMARCB1, SPRED1
NÖROLOJİ Nörönal Göç Bozuklukları Paneli Neuronal migration disorders panel ACTB, ACTG1, ARFGEF2, ARX, COL18A1, COL4A1, CPT2, DCX, EMX2, EOMES, FGFR3, FH, FKRP, FKTN, FLNA, ADG
ENDOKRİNOLOJİ Ketotik Olmayan Hiperglisinemi Paneli Non ketotic hyperglycinemia panel AMT, GCSH, GLDC
NÖROLOJİ Distorfik Olmayan Miyoteni Konjenita Paneli Non-dystrophic myotonia congenita panel ATP2A1, CACNA1S, CAV3, CLCN1, HINT1, HSPG2, KCNA1, KCNE3, SCN4A
ENDOKRİNOLOJİ Nonsendromik Hipotrikoz Paneli Nonsyndromic hypotrichosis panel APCDD1, CDSN, DSG4, HR, KRT71, KRT74, LIPH, LPAR6, RPL21, SNRPE
KARDİYOLOJİ Noonan Sendromu Paneli Noonan - CFC syndrome panel BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, SHOC2, SOS1, SOS2, SPRED1
ENDOKRİNOLOJİ Obezite Paneli Obesity panel ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CEP290, CUL4B, DYRK1B, GNAS, 
GÖZ Oküler Motor Apraksi Paneli Oculomotor apraxia panel APTX, PIK3R5, PNKP, SETX
GÖZ Oftalmopleji Paneli Ophthalmoplegia (progressive external) panel DNA2, OPA1, POLG, POLG2, RRM2B, SLC25A4, TWNK, TYMP
GÖZ Optik Atrofi Paneli Optic atrophy panel ACO2, AFG3L2, C12ORF65, CISD2, MFN2, NR2F1, OPA1, OPA3, RTN4IP1, SLC25A46, SPG7, TIMM8A, TMEM126A, WFS1
ORTAPEDİ Osteogenezis Imperfekta ve Düşük Kemik Yoğunluğu Paneli Osteogenesis imperfecta and low bone density disorders panel ALPL, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, P3H1, LRP5, PLOD2, PLS3, PPIB, SERPINF1, SERPINH1, SP7, TMEM38B, WNT1
ORTAPEDİ Osteopetrozis ve yüksek Kemik Yoğunluğu Bozuklukları Paneli Osteopetrosis and high bone density disorders panel ANKH, CA2, CLCN7, COL1A1, GJA1, HPGD, LRP5, MTAP, OSTM1, PLEKHM1, PTDSS1, SLCO2A1, SNX10, SOST, TBXAS1, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B, TNFSF11, TYROBP
JİNEKOLOJİ Yumurtalık Kanseri Paneli (Hedeflenmiş) Ovarian cancer panel, targeted BARD1, BRCA1, BRCA2, BRIP1, EPCAM, MLH1, MRE11A, MSH2, MSH6, NBN, PMS1, PMS2, RAD50, RAD51C, RAD51D, STK11, TP53
DAHİLİYE Pankreas Kanseri Paneli (Hedeflenmiş) Pancreatic cancer panel, targeted APC, ATM, BMPR1A, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2,PMS1, PMS2, PRSS1, SMAD4, STK11
DAHİLİYE Pankretizis Paneli Pancreatitis panel CFTR, CPA1, CTRC, PRSS1, SPINK1
NÖROLOJİ Parkinson Paneli Parkinsons disease panel ATP13A2, ATP1A3, ATP6AP2, DCTN1, DNAJC6, FBXO7, FTL, FUS, GBA, GCH1, GIGYF2, HTRA2, LRRK2, MAPT, PAR
ÇOCUK HASTALIKLARI Periyodik Ateş Sendromu Paneli Periodic fever syndrome panel ELANE, LPIN2, MEFV, MVK, NLRP3, PSTPIP1, TNFRSF1A
ONKOLOJİ Paraganglioma (PGL)-pheochromocytoma (PCC)- Gastrointestinal stromal tümör (GIST) Paneli PGL / PCC / GIST panel, targeted GDNF, KIF1B, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, TP53, VHL
DAHİLİYE Feokromositom Paneli Pheochromocytoma panel MAX, PRKAR1A, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
DAHİLİYE Polisistik Böbrek Paneli Polycystic kidney panel BICC1, PKD1, PKD2, NOTCH2, PKHD1
NÖROLOJİ Pontoserebellar Hipoplazi Paneli Pontocerebellar hypoplasia panel CASK, TSEN2, TSEN34, TSEN54, OPHN1, RARS2, VRK1, EXOSC3, CHMP1A
HEMATOLOJİ Birincil Antikor Eksikliği Paneli Primary antibody deficiency panel ADA, AICDA, ATM, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, DCLRE1C, ICOS, IGHM, IGLL1
NÖROLOJİ Prostat Kanseri Paneli Prostate cancer panel BRCA1, BRCA2, CHEK2, HOXB13, MLH1, MSH2, MSH6, NBN, PTEN, TP53
ÇOCUK HASTALIKLARI Pseudohypoaldosteronism Paneli Pseudohypoaldosteronism panel CUL3, HSD11B2, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4
KARDİYOLOJİ Pulmoner Hipertansiyon Paneli Pulmonary hypertension panel ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, FOXF1, GDF2, KCNA5, KCNK3, SMAD9
NÖROLOJİ Refsum Hastalığı Paneli Refsum disease panel PEX1, PEX2, PEX26, PEX7, PHYH
DAHİLİYE Böbrek Kanseri Paneli (Hedeflenmiş) Renal cancer panel, targeted EPCAM, FH, FLCN, HNF1A, HNF1B, MET, MITF, MLH1, MSH2, MSH6, PMS1, PMS2, PTEN, SDHB, SDHD, TSC1, TSC2, VHL, WT1
DAHİLİYE Tubuler Böbrek Asidlenmesi Paneli Renal tubular acidosis panel ATP6V0A4, ATP6V1B1, CA2, EHHADH, HNF4A, SLC34A1, SLC4A1, SLC4A4
GÖZ Retina Pigmentlenmesi Paneli (Otozomal Dominant) Retinitis pigmentosa panel, autosomal dominant ABCA4, BEST1, CA4, CRX, CLRN1, FSCN2, GUCA1B, IMPDH1, KLHL7, NR2E3, NRL, PRPF3, PRPF31, PRPF6, PRPF8
GÖZ Retina Pigmentlenmesi Paneli (Otozomal Resesif) Retinitis pigmentosa panel, autosomal recessive ABCA4, ARL6, BBS1, BEST1, C2ORF71, C8ORF37, CERKL, CNGA1, CNGB1, CRB1, DHDDS, EYS, FAM161A, FLVCR1, 
NÖROLOJİ Spinoserebellar Ataksi (SCA) Kapsamlı Panel SCA comprehensive panel ABCB7, ABHD12, ABHD5, ACADVL, AFG3L2, ANO10, APTX, ATCAY, ATM, ATP2B3, CA8, CACNA1A, CCDC88C, COQ8A,
NÖROLOJİ Spinoserebellar Ataksi (SCA) Tekrarlayan Genişleme Paneli SCA repeat expansion panel ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, BEAN1, CACNA1A, FXN, NOP56, PPP2R2B, TBP
NÖROLOJİ Spinoserebellar Ataksi (SCA) Dizilemi Paneli SCA sequencing panel ABCB7, ABHD12, ABHD5, ACADVL, AFG3L2, ANO10, APTX, ATCAY, ATM, ATP2B3, CA8, CACNA1A, CCDC88C, COQ8A,
NÖROLOJİ Seckel Sendromu Paneli Seckel syndrome panel ATR, RBBP8, CENPJ, CEP152, CEP63, ATRIP
ORTAPEDİ İskelet Displazisi Siliopati Paneli  Skeletal dysplasia ciliopathy panel DYNC2H1, EVC, EVC2, IFT43, IFT80, IFT122, IFT140, IFT172, NEK1, TCTN3, TTC21B, WDR19, WDR34, WDR35, WDR60
ORTAPEDİ İskelet Displazisi Paneli , Gelişmiş Skeletal dysplasia extended panel ALPL, ARSE, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, DDR2, EBP, FGFR3, FLNB, HSPG2, INPPL1
DERMATOLOJİ Cilt Kanseri Paneli, Hedeflenmiş Skin cancer panel, targeted CDKN2A, EPCAM, MC1R, MITF, MLH1, MSH2, MSH6, PMS1, PMS2, POT1, PTCH1, XRCC3
ORTAPEDİ SMN Negatif Spinal Müsküler Atrofi Paneli SMN negative spinal muscular atrophy panel ATP7A, BICD2, BSCL2, CHCHD10, DCTN1, DNAJB2, DYNC1H1, EXOSC3, EXOSC8, FBXO38, GARS, HSPB1, HSPB3, HSPB8, IGHMBP2, TRPV4, UBA1, VAPB
ONKOLOJİ Solid (Danayanıklı Sert) Tümör Paneli Solid Tumor Panel ABL1, AKT1, ALK, APC, AR, ARID1A, ASXL1, ATM, AXL, BRAF, CDH1, CDK4, CDKN2A, CTNNB1, DDR2, EGFR, ERB
NÖROLOJİ Spastik Parapleji Paneli, Tamamı Spastic paraplegia panel complete ALDH18A1, ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARSI, ATL1, ATP2B4, B4GALNT1, BIC
NÖROLOJİ Spastik Parapleji Paneli, Otozomal Dominant Spastic paraplegia panel, autosomal dominant ALDH18A1, ATL1, ATP2B4, BICD2, BSCL2, HSPD1, KIAA0196, KIF5A, NIPA1, REEP1, RTN2, SLC33A1, SPAST, TTR, VAMP1, ZFYVE27
NÖROLOJİ Spastik Parapleji Paneli, Otozomal Resesif Spastic paraplegia panel, autosomal recessive ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARSI, B4GALNT1, C12ORF65, C19orf12, CCT5, C
HEMATOLOJİ Sferositozis Paneli Spherocytosis panel ANK1, EPB42, SLC4A1, SPTA1, SPTB
GÖZ Stargardt Hastalığı Paneli Stargardt disease panel ABCA4, BEST1, C1QTNF5, CDH3, CNGB3, ELOVL4, FSCN2, PROM1, PRPH2, RDH12, RP1L1, RPGR, TIMP3
NÖROLOJİ Stickler Sendromu Paneli Stickler syndrome panel COL2A1, COL9A1, COL9A2, COL11A1, COL11A2
GÖĞÜS HASTALIKLARI Sürfaktan metabolizması bozukluğu Paneli Surfactant metabolism dysfunction panel ABCA3, CSF2RA, CSF2RB, SFTPA1, SFTPB, SFTPC, SFTPD
GÖĞÜS HASTALIKLARI Atipikal Miyobakterium Hastalığı Olasılığı Paneli Susceptibility to atypical mycobacterium disease panel CYBB, IFNGR1, IFNGR2, IKBKG, IL12A, IL12B, IL12RB1, IL12RB2, IRF8, ISG15, STAT1, TYK2
NÖROLOJİ Sendromik Otizm Paneli Syndromic autism panel ADNP, ADSL, ALDH5A1, AMT, ANKRD11, ARID1B, BRAF, CACNA1C, CDKL5, CHD2, CHD7, CNTNAP2, CREBBP, DHCR7,
HEMATOLOJİ Trombositopeni Paneli Thrombocytopenia panel ADAMTS13, ANKRD26, CYCS, GATA1, GP1BA, GP1BB, GP9, ITGA2B, ITGB3, MASTL, MPL, MYH9, RUNX1, WAS
HORMON Tiroid Kanser Paneli, Hedeflenmiş Thyroid cancer panel, targeted APC, PTEN, RET
GÖĞÜS HASTALIKLARI Tüberküloz Paneli Tuberous sclerosis panel TSC1, TSC2
ORTAPEDİ Ullrich Musküler Distrofi Paneli Ullrich muscular dystrophy panel COL6A1, COL6A2, COL6A3
ÜROLOJİ Üre Döngüsü Bozuklukları (UCD) Paneli Urea cycle disorder panel ARG1, ASL, ASS1, CPS1, NAGS, OTC
GÖZ Usher Sendromu (Gece Körlüğü) Paneli Usher syndrome panel CDH23, CIB2, CLRN1, DFNB31, ADGRV1, MYO7A, PCDH15, PDZD7,USH1C, USH1G, USH2A
JİNEKOLOJİ Rahim Kanseri Paneli, Hedeflenmiş Uterine cancer panel, targeted EPCAM, MLH1, MSH2, MSH6, PMS1, PMS2, PTEN
NÖROLOJİ Vitreoretinopati ve Wagner Sendromu Paneli Vitreoretinopathy and Wagner syndrome panel COL2A1, FZD4, LRP5, NDP, TSPAN12, VCAN
NÖROLOJİ Waardenburg Sendromu Paneli Waardenburg syndrome panel EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR
NÖROLOJİ Zellweger Sendromu (ZS) Paneli Zellweger syndrome panel PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26