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Hereditary mitochondrial diseases are a group of conditions that affect the mitochondria (structures in each cell responsible for making energy). Mitochondrial disorders are present at any age affecting different body systems, including brain, muscles, heart, liver, nerves, eyes, ears and kidneys with varied severity. Symptoms include developmental delay, weak muscles, diabetes, heart, liver, and/or kidney disease.
They are caused by pathogenic variants in the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate energy production. Conditions can involve mitochondrial respiratory chain and thus of oxidative phosphorylation and, in addition, by conditions of other biochemical mechanisms, such as beta-oxidation, mitochondrial fusion and division, and many others.
Early identification of individuals at risk can help establish the right clinical management
plan.
We offer comprehensive and syndrome-specific panels testing for mitochondrial diseases. The test can offer a molecular genetic diagnosis of a mitochondrial disorder that is observed or predicted in you/your child or a family member.
Please reach us at contact@genatechs.com if you cannot find test or panel you are seeking.
AARS, AARS2, ABCB11, ABCB4, ABCB7, ABCD4, ACAD9, ACADM, ACADVL, ACO2,
ACSF3, ADCK3, ADCK4, AFG3L2, AGK, AGL, AIFM1, ALAS2, ALDOA, ALDOB, ALG1,
ALG11, ALG13, ALG2, ALG3, ALG6, ALG9, AMACR, APOPT1, APTX, ARG1, ASL,
ASS1, ATP5A1, ATP5E, ATP7B, ATP8B1, ATPAF2, AUH, B4GALT1, BCKDHA,
BCKDHB, BCS1L, BOLA3, C10ORF2, C12ORF65, C19ORF12, CA5A, CARS2, CHKB,
CISD2, CLPB, COA5, COA6, COASY, COG4, COG5, COG6, COG7, COG8, COQ2,
COQ4, COQ6, COQ9, COX10, COX14, COX15, COX20, COX4I2, COX6A1, COX6B1,
COX7B, CPS1, CPT1A, CPT2, CYC1, DARS, DARS2, DBT, DDHD1, DDHD2, DDOST,
DGUOK, DLAT, DLD, DMGDH, DNA2, DNAJC19, DNM1L, DNM2, DOLK, DPAGT1,
DPM1, DPM3, EARS2, ECHS1, ELAC2, ENO3, ETFA, ETFB, ETFDH, ETHE1, FAH,
FARS2, FASTKD2, FBP1, FBXL4, FDX1L, FH, FLAD1, FOXRED1, G6PC, GAA, GAMT,
GARS, GATM, GBE1, GCDH, GFER, GFM1, GFM2, GLRX5, GMPPA, GSS, GTPBP3,
GYG1, GYG2, GYS1, GYS2, HADHA, HADHB, HARS2, HCFC1, HIBCH, HLCS,
HMGCL, HMGCS2, HSD17B10, HSPD1, IARS2, IBA57, ISCA2, ISCU, IVD, LAMP2,
LARS, LARS2, LDHA, LIAS, LIPT1, LMBRD1, LRPPRC, LYRM4, LYRM7, MARS,
MARS2, MCCC1, MCCC2, MCEE, MFF, MFN2, MGAT2, MGME1, MICU1, MLYCD,
MMAA, MMAB, MMACHC, MMADHC, MOGS, MPC1, MPDU1, MPI, MPV17, MRPL12,
MRPL3, MRPL44, MRPS16, MRPS22, MRPS7, MTFMT, MTO1, MTPAP, MTR, MTRR,
MUT, NADK2, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13,
NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5,
NDUFAF6, NDUFAF7, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4,
NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFS1, NFU1, NGLY1, NR2F1,
NUBPL, OPA1, OPA3, OTC, PARS2, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1,
PDSS1, PDSS2, PET100, PFKM, PGAM2, PGM1, PHKA1, PHKA2, PHKB, PHKG2,
PMM2, PNPT1, POLG, POLG2, PRKAG2, PRPS1, PTRH2, PUS1, PYGM, QARS,
RANBP2, RARS, RARS2, REEP1, RFT1, RMND1, RRM2B, SARS2, SCO1, SCO2,
SDHA, SDHAF1, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A1,
SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A38,
SLC25A4, SLC2A2, SLC35A1, SLC35A2, SLC35C1, SLC37A4, SLC6A8, SLC7A7,
SPAST, SPG7, SPTLC1, SRD5A3, SSR4, STT3A, STT3B, STXBP1, SUCLA2,
SUCLG1, SURF1, TACO1, TARS2, TAZ, TIMM44, TIMM8A, TK2, TMEM126A,
TMEM165, TMEM70, TPK1, TRIT1, TRMU, TRNT1, TSFM, TTC19, TUFM, TYMP,
UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WDR45, WFS1, YARS2
Single Gene
Sample will be processed for whole mitochondrial genome sequencing and neurology panel simultaneously.
Sample will be processed for clinical exome & whole mitochondrial genome sequencing simultaneously.
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