Митохондриопатии
Мы предлагаем Вам 2 панели для диагностики митохондриопатий
Спектр исследуемых генов:
MIT01: Закодированные в мтДНК митохондриопатии (38 генов + контрольные области)
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MT-ND4
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MT-ATP6
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MT-ATP8
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MT-CO1
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MT-CO2
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MT-CO3
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MT-CYB
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MT-DLOOP
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MT-ND1
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MT-ND2
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MT-ND3
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MT-ND4L
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MT-ND5
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MT-ND6
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MT-RNR1
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MT-RNR2
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MT-TA
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MT-TC
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MT-TD
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MT-TE
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MT-TF
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MT-TG
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MT-TH
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MT-TI
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MT-TK
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MT-TL1
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MT-TL2
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MT-TM
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MT-TN
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MT-TP
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MT-TQ
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MT-TR
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MT-TS1
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MT-TS2
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MT-TT
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MT-TV
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MT-TW
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MT-TY
MIT02: Закодированные в ядре митохондриопатии (174 гена)
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AARS2
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ABCB7
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ACAD9
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ACADM
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ACADS
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ACADVL
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ACO2
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ADCK3
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AFG3L2
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AGK
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AIFM1
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ALAS2
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AMPD1
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APTX
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ATL1
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ATP13A2
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ATP5E
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ATPAF2
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AUH
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BCS1L
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BOLA3
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C10orf2
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C12orf65
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CISD2
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COA5
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COQ2
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COQ6
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COQ9
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COX10
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COX14
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COX15
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COX20
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COX4I2
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COX6B1
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CPT1A
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CPT2
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D2HGDH
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DARS2
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DECR1
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DGUOK
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DLAT
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DLD
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DNAJC19
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DNM1L
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EARS2
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EIF2AK3
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ETFA
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ETFB
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ETFDH
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ETHE1
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FASTKD2
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FH
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FOXRED1
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FXN
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GAMT
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GARS
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GATM
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GDAP1
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GFER
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GFM1
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GLRX5
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HADH
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HADHA
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HADHB
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HARS2
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HSPD1
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IDH2
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ISCU
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KARS
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KIF5A
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L2HGDH
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LAMP2
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LIAS
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LRPPRC
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MARS2
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MFN2
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MPC1
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MPV17
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MRPS16
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MRPS22
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MTFMT
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MTO1
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MTPAP
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NDUFA1
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NDUFA10
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NDUFA11
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NDUFA12
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NDUFA2
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NDUFA9
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NDUFAF1
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NDUFAF2
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NDUFAF3
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NDUFAF4
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NDUFAF5
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NDUFAF6
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NDUFB3
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NDUFB9
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NDUFS1
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NDUFS2
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NDUFS3
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NDUFS4
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NDUFS6
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NDUFS7
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NDUFS8
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NDUFV1
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NDUFV2
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NFU1
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NUBPL
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OPA1
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OPA3
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OXCT1
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PANK2
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PC
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PDHA1
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PDHB
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PDHX
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PDP1
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PDSS1
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PDSS2
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PFKM
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PYGM
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PNPT1
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POLG
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POLG2
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PUS1
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RARS2
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REEP1
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RMND1
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RRM2B
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SARS2
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SCO1
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SCO2
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SDHA
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SDHAF1
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SDHAF2
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SDHB
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SDHC
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SDHD
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SERAC1
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SLC19A2
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SLC19A3
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SLC22A5
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SLC25A12
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SLC25A19
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SLC25A20
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SLC25A3
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SLC25A38
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SLC25A4
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SLC33A1
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SLC6A8
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SPAST
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SPG20
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SPG7
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SUCLA2
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SUCLG1
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SURF1
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TACO1
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TAZ
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TIMM8A
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TK2
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TMEM126A
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TMEM70
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TPK1
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TRMU
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TSFM
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TTC19
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TUFM
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TYMP
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UQCRB
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UQCRC2
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UQCRQ
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WFS1
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XPNPEP3
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YARS2