Comprehensive Cellular Energetics Defects + mtDNA


Test Details
TEST CODE NGS301
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 320
CPT CODE 81440, 81460, 81465
PRICE $2495
RECOMMENDED MNG KITS
  • SINGLE Blood Genetic Testing
  • Buccal Swab Genetic Testing

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Clinical Information
Clinical Significance Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis.
Relevant Diseases
  • Cellular Energetics Defects

Specimen Information
Acceptable Sample Types
  • Muscle
  • Cultured Fibroblasts
  • Whole Blood - EDTA
  • Extracted DNA - Leukocytes
  • Buccal Cells
Sample Preparation: (1) Blood specimens: Draw blood in an EDTA tube. Preferred volume: 4 milliliters (adults and pediatrics), Minimum volume: 2 milliliters; (2) DNA extracted from leukocytes, muscle, or fibroblasts: Preferred quantity: 4 micrograms, Minimum quantity: 3 micrograms (Genomic DNA should be eluted in sterile Dnase/Rnase free water or TE. The A260:A280 ratio should be 1.8-2.0.); (3) 2 T-25 flasks of fibroblasts; (4) 50-75 milligrams muscle snap frozen in liquid nitrogen and maintained at -80┬░Celsius or below. (5) Skin biopsy (Fibroblasts will be cultured from skin specimen for genetic testing): Skin biopsy may be taken from the inner forearm with a sterile skin punch (2-5 millimeters) or at incision site of muscle biopsy. Site is sterilized with alcohol swabs only (other reagents will inhibit cell isolation/growth). Biopsy site may be anaesthetized with 2% lidocaine with epinephrine. Depth of punch is 2mm. Transfer skin biopsy into 15 milliliter conical tube filled with sterile culture media. (6) Buccal cells.
Shipping Condition: MNG SmartKits are available for free shipping of specimens. Please see our website for details. If you are not using a MNG SmartKit: (1) Blood specimens should be shipped in a secure container at room temperature. (2) Extracted DNA should be shipped priority overnight at ambient temperature. (3) T-25 flasks containing fibroblasts should be shipped in an insulated container at room temperature. Flasks should be completely filled with media and cells should be ~90% confluent. Fibroblast samples must be certified free from Mycoplasma. MNG is able to perform this service for a small charge (See TC05). (4) Muscle samples should be shipped frozen in an insulated container with 5-7 lbs dry ice. (5) Buccal cells should be shipped in a secure container at room temperature. (6) Skin Biopsy: Conical containing the skin specimen should be shipped in a secure container with cold pack (DO NOT FREEZE). All samples should be shipped overnight at the proper temperature for receipt by our lab Monday thru Saturday (No Sunday or holiday deliveries accepted).

Genes Assessed
AARS2
ABCB7
ABCD1
ABHD5
ACACA
ACAD8
ACAD9
ACADM
ACADS
ACADSB
ACADVL
ACAT1
ACAT2
ACO2
ACOX1
ACOX2
ACSF3
ACSL4
ADCK3
AFG3L2
AGK
AGL
AIFM1
AK2
ALAD
ALDH3A2
ALDOA
ALDOB
ANO10
APOPT1
APTX
ARMS2
ARX
ATP5A1
ATP5E
ATP7B
ATPAF2
AUH
BCKDHA
BCKDHB
BCS1L
BOLA3
BTD
C10ORF2
C12orf65
CA5A
CACNA1S
CALM1
CALM2
CARS2
CHCHD10
CHKB
CISD2
CLPP
COA5
COQ2
COQ4
COQ6
COQ7
COQ9
COX10
COX14
COX15
COX20
COX4I2
COX6A1
COX6B1
COX7B
COX8A
CPOX
CPT1A
CPT1C
CPT2
CYC1
DARS
DARS2
DBT
DGUOK
DHTKD1
DLAT
DLD
DNA2
DNAJC19
DNM1L
EARS2
ECHS1
EHHADH
ELOVL4
ELOVL5
ENO3
ETFA
ETFB
ETFDH
ETHE1
FARS2
FASTKD2
FBP1
FBXL4
FECH
FH
FOLR1
FOXRED1
FXN
G6PC
G6PC3
G6PD
GAA
GAMT
GARS
GATM
GBE1
GCDH
GCK
GFER
GFM1
GFM2
GPD1
GPHN
GPI
GPT2
GSS
GTPBP3
GYG1
GYS1
GYS2
HADH
HADHA
HADHB
HARS2
HCCS
HK1
HLCS
HMBS
HMGCL
HSPA9
HSPD1
HTT
IARS2
IBA57
IDH2
IDH3B
ISCU
ITPA
KARS
KIF1B
L2HGDH
LAMP2
LARS2
LDHA
LDHB
LIAS
LIPE
LIPT1
LRPPRC
LRRK2
LYRM4
LYRM7
MARS
MARS2
MCEE
MDH2
MFN2
MGME1
MLYCD
MPC1
MPV17
MRPL3
MRPL44
MRPS16
MRPS22
MTFMT
MTO1
MTPAP
NARS2
NDUFA1
NDUFA10
NDUFA11
NDUFA12
NDUFA2
NDUFA9
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF4
NDUFAF6
NDUFAlsF5
NDUFB11
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NFU1
NNT
NTHL1
NUBPL
OCRL
OGDH
OPA1
OPA3
OXCT1
PANK2
PC
PCK1
PDHA1
PDHB
PDHX
PDK3
PDP1
PDSS1
PDSS2
PFKM
PGAM2
PGK1
PGM1
PGM3
PHKA1
PHKA2
PHKB
PHKG2
PKLR
PNPLA2
PNPT1
POLG
POLG2
PPARGC1B
PPOX
PRKAG2
PRKAG3
PUS1
PYGL
PYGM
RARS
RARS2
RMND1
RMRP
RPL35A
RRM2B
RYR1
SARS2
SCO1
SCO2
SCP2
SDHA
SDHAF1
SDHAF2
SDHB
SDHC
SDHD
SECISBP2
SERAC1
SETX
SI
SLC16A1
SLC19A3
SLC22A5
SLC25A1
SLC25A12
SLC25A19
SLC25A20
SLC25A22
SLC25A3
SLC25A32
SLC25A4
SLC27A4
SLC2A1
SLC2A10
SLC2A2
SLC33A1
SLC37A4
SLC52A2
SLC6A8
SPG7
SPTLC1
ST3GAL5
SUCLA2
SUCLG1
SUGCT
SUOX
SURF1
TACO1
TALDO1
TAP1
TARS2
TAZ
TBCD
TECR
TFAM
TIMM50
TIMM8A
TK2
TKT
TMEM126A
TMEM70
TMLHE
TPI1
TRMU
TRNT1
TSFM
TTC19
TUFM
TYMP
UCP1
UCP3
UNG
UQCC2
UQCRB
UQCRC2
UQCRQ
UROD
UROS
VARS2
WARS2
YARS2

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